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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GDAP1
ganglioside induced differentiation associated protein 1
Chromosome 8 Β· 8q21.11
NCBI Gene: 54332Ensembl: ENSG00000104381.14HGNC: HGNC:15968UniProt: A0A6Q8PEZ4
115PubMed Papers
24Diseases
0Drugs
102Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionmembranemitochondrial fusionmitochondrial fissionAutosomal recessive Charcot-Marie-Tooth disease with hoarsenessCharcot-Marie-Tooth disease axonal type 2KCharcot-Marie-Tooth disease type 4AAutosomal recessive intermediate Charcot-Marie-Tooth disease type A
✦AI Summary

GDAP1 is a mitochondrial outer membrane protein that regulates the mitochondrial network by promoting mitochondrial fission 1. As an atypical glutathione S-transferase, GDAP1 functions in multiple cellular processes including mitochondrial dynamics, autophagy, and membrane contact sites between mitochondria and lysosomes 1. GDAP1 participates in basal autophagy and interacts with lysosomal machinery, including the novel interaction with LAMP-1 to mediate mitochondria-lysosome membrane contacts critical for lysosomal maturation 1. GDAP1 also contributes to cellular glutathione homeostasis and calcium regulation. Mutations in GDAP1 cause multiple forms of Charcot-Marie-Tooth (CMT) disease, including axonal type 2K, demyelinating type 4A, and recessive intermediate forms 23. CMT-GDAP1 disease manifests as early-onset, progressive distal-muscle wasting and axonal degeneration 4. GDAP1 mutations account for a small percentage of CMT cases overall but are significant contributors to recessive CMT subtypes 5. GDAP1 deficiency impairs mitochondrial networks, reduces mitochondria-lysosome contacts, and decreases cellular glutathione levels, underlying the primary pathophysiology of CMT 1. Additionally, GDAP1 variants have been identified in genome-wide association studies for endometriosis and type 2 diabetes, suggesting broader physiological roles 67.

Sources cited
1
GDAP1 is an atypical GST on the outer mitochondrial membrane; regulates mitochondrial fission, autophagy, mitochondria-lysosome membrane contacts, and glutathione levels
PMID: 33372681
2
GDAP1 mutations cause early-onset progressive CMT with axonal degeneration; GDAP1 is expressed in neuronal cells and functions in mitochondrial fission
PMID: 29694336
3
GDAP1 is associated with Charcot-Marie-Tooth disease in a diverse neuromuscular cohort
PMID: 34602496
4
GDAP1 mutations are associated with recessive intermediate CMT (RI-CMT)
PMID: 25326399
5
GDAP1 mutations account for a small fraction of CMT cases among 14 major CMT genes tested
PMID: 25614874
6
GDAP1 is associated with pain perception/maintenance in endometriosis genome-wide association study
PMID: 36914876
7
GDAP1 variants are newly implicated in type 2 diabetes predisposition in East Asian populations
PMID: 32499647
8
GDAP1 promoter methylation regulates GDAP1 gene expression; inhibitors can induce expression
PMID: 39328838
Disease Associationsβ“˜24
Autosomal recessive Charcot-Marie-Tooth disease with hoarsenessOpen Targets
0.83Strong
Charcot-Marie-Tooth disease axonal type 2KOpen Targets
0.81Strong
Charcot-Marie-Tooth disease type 4AOpen Targets
0.80Strong
Autosomal recessive intermediate Charcot-Marie-Tooth disease type AOpen Targets
0.72Strong
Charcot-Marie-Tooth disease recessive intermediate AOpen Targets
0.70Strong
Charcot-Marie-Tooth diseaseOpen Targets
0.67Moderate
genetic disorderOpen Targets
0.52Moderate
endometriosisOpen Targets
0.47Moderate
congenital myopathy 25Open Targets
0.42Moderate
autosomal dominant Charcot-Marie-Tooth disease type 2KOpen Targets
0.41Moderate
peripheral neuropathyOpen Targets
0.37Weak
Sensory neuropathyOpen Targets
0.35Weak
axonal neuropathyOpen Targets
0.34Weak
polyneuropathyOpen Targets
0.34Weak
Elevated circulating alkaline phosphatase concentrationOpen Targets
0.34Weak
Elevated circulating creatine kinase concentrationOpen Targets
0.34Weak
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.34Weak
congenital myopathyOpen Targets
0.33Weak
Tip-toe gaitOpen Targets
0.29Weak
endometriosis of pelvic peritoneumOpen Targets
0.24Weak
Charcot-Marie-Tooth disease, axonal, type 2KUniProt
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessiveUniProt
Charcot-Marie-Tooth disease, demyelinating, type 4AUniProt
Charcot-Marie-Tooth disease, recessive intermediate AUniProt
Pathogenic Variants102
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)Pathogenic
Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease recessive intermediate A|not provided|Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
β˜…β˜…β˜†β˜†2026β†’ Residue 125
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)Pathogenic
Neuropathy, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease type 4A|not provided|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease recessive intermediate A
β˜…β˜…β˜†β˜†2026β†’ Residue 163
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)Pathogenic
Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease|Peripheral neuropathy|Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease axonal type 2K|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 153
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)Pathogenic
Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K|not provided|Elevated circulating creatine kinase concentration;Elevated circulating alkaline phosphatase concentration;Peripheral axonal neuropathy;Polyneuropathy;Sensory neuropathy|GDAP1-related disorder|Charcot-Marie-Tooth disease|Inborn genetic diseases|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A
β˜…β˜…β˜†β˜†2025β†’ Residue 239
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)Pathogenic
Charcot-Marie-Tooth disease recessive intermediate A|not provided|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
β˜…β˜…β˜†β˜†2025β†’ Residue 282
NM_018972.4(GDAP1):c.536del (p.Pro179fs)Pathogenic
Charcot-Marie-Tooth disease type 4A|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 179
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)Pathogenic
Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|not provided|Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
β˜…β˜…β˜†β˜†2025β†’ Residue 194
NM_018972.4(GDAP1):c.694+1G>APathogenic
Charcot-Marie-Tooth disease type 4A|not provided|Inborn genetic diseases|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease recessive intermediate A
β˜…β˜…β˜†β˜†2025
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)Pathogenic
Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|not provided|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 120
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)Pathogenic
Charcot-Marie-Tooth disease axonal type 2K|not provided|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease|Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
β˜…β˜…β˜†β˜†2025β†’ Residue 231
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)Pathogenic
not provided|Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4A
β˜…β˜…β˜†β˜†2025β†’ Residue 257
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)Pathogenic
Charcot-Marie-Tooth disease axonal type 2K|not provided|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease
β˜…β˜…β˜†β˜†2025β†’ Residue 123
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)Pathogenic
Charcot-Marie-Tooth disease type 4A
β˜…β˜…β˜†β˜†2025β†’ Residue 119
NM_018972.4(GDAP1):c.786del (p.Phe263fs)Pathogenic
Charcot-Marie-Tooth disease type 4A|not provided|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease recessive intermediate A
β˜…β˜…β˜†β˜†2025β†’ Residue 263
NM_018972.4(GDAP1):c.767A>G (p.His256Arg)Pathogenic
not provided|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 256
NM_018972.4(GDAP1):c.311-1G>APathogenic
Charcot-Marie-Tooth disease|not provided|Charcot-Marie-Tooth disease type 4A|GDAP1-related disorder|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
β˜…β˜…β˜†β˜†2025
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)Pathogenic
Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease|not provided|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease recessive intermediate A
β˜…β˜…β˜†β˜†2024β†’ Residue 116
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)Pathogenic
not provided|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K
β˜…β˜…β˜†β˜†2024β†’ Residue 310
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)Pathogenic
GDAP1-related disorder|Charcot-Marie-Tooth disease type 4A|Inborn genetic diseases|Charcot-Marie-Tooth disease
β˜…β˜…β˜†β˜†2024β†’ Residue 282
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)Pathogenic
Charcot-Marie-Tooth disease type 4A|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 161
View on ClinVar β†—
Related Genes
MFN2Protein interaction93%MFN1Protein interaction89%FIS1Protein interaction89%RNMTProtein interaction88%PMP2Protein interaction84%MPZL1Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
18%
Ovary
17%
Heart
9%
Liver
4%
Lung
4%
Gene Interaction Network
Click a node to explore
GDAP1MFN2MFN1FIS1RNMTPMP2MPZL1
PROTEIN STRUCTURE
Preparing viewer…
PDB8A4K Β· 1.95 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.44–0.96]
RankingsWhere GDAP1 stands among ~20K protein-coding genes
  • #4,119of 20,598
    Most Researched115 Β· top quartile
  • #755of 5,498
    Most Pathogenic Variants102 Β· top quartile
  • #9,096of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedGDAP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.
PMID: 36914876
Nat Genet Β· 2023
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
Identification of type 2 diabetes loci in 433,540 East Asian individuals.
PMID: 32499647
Nature Β· 2020
0.80
4
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
PMID: 33372681
Hum Mol Genet Β· 2021
0.70
5
Epigenetic regulation of the human
PMID: 39328838
Biochem Biophys Rep Β· 2024
0.60