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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LRSAM1
leucine rich repeat and sterile alpha motif containing 1
Chromosome 9 Β· 9q33.3-q34.11
NCBI Gene: 90678Ensembl: ENSG00000148356.15HGNC: HGNC:25135UniProt: A0A6Q8PGW1
77PubMed Papers
21Diseases
0Drugs
90Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ubiquitin-protein transferase activityprotein bindingubiquitin protein ligase activityprotein polyubiquitinationCharcot-Marie-Tooth disease axonal type 2Pgenetic disorderCharcot-Marie-Tooth diseaseheadache disorder
✦AI Summary

LRSAM1 is a RING-type E3 ubiquitin ligase with diverse cellular functions centered on protein quality control and pathogen defense. Primary Function: LRSAM1 catalyzes ubiquitination of target proteins, with TSG101 as its established substrate, regulating endocytic and exocytic cargo sorting 1. Beyond TSG101, LRSAM1 functions as a bacterial recognition protein that localizes to intracellular pathogens and generates ubiquitin signals triggering xenophagy-mediated bacterial degradation 1. Mechanism: LRSAM1 exhibits self-association that amplifies E3 ligase activity through intermolecular ubiquitination, with domain-specific regulation where the CC2-SAM domain inhibits activity while tandem CC1 domains counteract this inhibition 2. The C-terminal RING domain is crucial for ubiquitination function 3. Disease Relevance: LRSAM1 mutations cause Charcot-Marie-Tooth disease type 2P (CMT2P), with dominant mutations clustering in the RING domain causing mild, slowly progressive axonal neuropathy with variable penetrance, while recessive mutations cause complete loss of function 3. In a CMT2P mouse model, the C698R mutation impairs nerve regeneration following injury 4. Clinical Significance: CMT2P presents with axonal neuropathy primarily affecting lower limbs, onset between second and fifth decades, with asymptomatic carriers possible 3. MRI showing fatty atrophy aids in detecting subclinical carriers. Recent studies link LRSAM1 dysfunction to other neurodegenerative diseases, suggesting broader therapeutic relevance 3.

Sources cited
1
LRSAM1 is a RING-type E3 ubiquitin ligase with TSG101 as a known substrate; functions in protein quality control, endosomal sorting, and bacterial defense through xenophagy
PMID: 30826859
2
LRSAM1 exhibits self-association promoting intermolecular ubiquitination; domain-specific regulation where CC2-SAM inhibits activity and tandem CC1 domains counteract this
PMID: 28189685
3
LRSAM1 mutations cause CMT2P with dominant mutations in RING domain causing mild progressive axonal neuropathy; recessive mutations cause complete loss of function; variable phenotypic penetrance
PMID: 33568173
4
C698R LRSAM1 mutation in mice results in impaired nerve regeneration following crush injury, relevant to CMT2P pathophysiology
PMID: 35842440
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Charcot-Marie-Tooth disease axonal type 2POpen Targets
0.80Strong
genetic disorderOpen Targets
0.52Moderate
Charcot-Marie-Tooth diseaseOpen Targets
0.51Moderate
headache disorderOpen Targets
0.27Weak
Charcot-Marie-Tooth disease type 2Open Targets
0.17Weak
Charcot-Marie-Tooth disease type 1Open Targets
0.11Weak
Charcot-Marie-Tooth disease type 4Open Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
hereditary neuropathy with liability to pressure palsiesOpen Targets
0.05Suggestive
amyotrophic lateral sclerosis type 11Open Targets
0.04Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.04Suggestive
amyotrophic lateral sclerosis type 4Open Targets
0.04Suggestive
Charcot-Marie-Tooth disease type 1AOpen Targets
0.04Suggestive
autosomal dominant slowed nerve conduction velocityOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease type 4JOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease type 4AOpen Targets
0.04Suggestive
urethral syndromeOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease dominant intermediate COpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease, axonal, type 2PUniProt
Pathogenic Variants90
NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 690
NM_001005373.4(LRSAM1):c.1957dup (p.Gln653fs)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β˜…β˜…β˜†β˜†2025β†’ Residue 653
NM_001005373.4(LRSAM1):c.2027_2033del (p.Val676fs)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|Charcot-Marie-Tooth disease axonal type 2P-AR
β˜…β˜…β˜†β˜†2025β†’ Residue 676
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)Pathogenic
Inborn genetic diseases|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2P|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 707
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 698
NM_001005373.4(LRSAM1):c.831del (p.Gln278fs)Pathogenic
Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2P
β˜…β˜…β˜†β˜†2025β†’ Residue 278
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|Charcot-Marie-Tooth disease|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 674
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β˜…β˜…β˜†β˜†2025β†’ Residue 427
NM_001005373.4(LRSAM1):c.517C>T (p.Arg173Ter)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β˜…β˜…β˜†β˜†2025β†’ Residue 173
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs)Likely pathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2P
β˜…β˜…β˜†β˜†2025β†’ Residue 670
NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2P-AR
β˜…β˜…β˜†β˜†2024β†’ Residue 565
NM_001005373.4(LRSAM1):c.1913-1G>APathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2P|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024
NM_001005373.4(LRSAM1):c.2011C>T (p.Gln671Ter)Likely pathogenic
not provided|LZTR1-related schwannomatosis
β˜…β˜…β˜†β˜†2024β†’ Residue 671
NM_001005373.4(LRSAM1):c.904-2A>GLikely pathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2P
β˜…β˜…β˜†β˜†2024
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|Charcot-Marie-Tooth disease|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 607
NM_001005373.4(LRSAM1):c.2003_2015del (p.Leu668fs)Likely pathogenic
not provided|Charcot-Marie-Tooth disease axonal type 2P
β˜…β˜…β˜†β˜†2022β†’ Residue 668
NM_001005373.4(LRSAM1):c.2080T>C (p.Cys694Arg)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β˜…β˜†β˜†β˜†2026β†’ Residue 694
NM_001005373.4(LRSAM1):c.2029del (p.Val677fs)Likely pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β˜…β˜†β˜†β˜†2026β†’ Residue 677
NM_001005373.4(LRSAM1):c.304C>T (p.Gln102Ter)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β˜…β˜†β˜†β˜†2025β†’ Residue 102
NM_001005373.4(LRSAM1):c.2005G>T (p.Glu669Ter)Likely pathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2P
β˜…β˜†β˜†β˜†2025β†’ Residue 669
View on ClinVar β†—
Related Genes
CEP55Protein interaction100%TSG101Protein interaction98%VPS28Protein interaction98%CALCOCO2Protein interaction88%STK25Protein interaction83%STK26Protein interaction83%
Tissue Expression6 tissues
Ovary
100%
Heart
98%
Liver
90%
Bone Marrow
86%
Lung
79%
Brain
74%
Gene Interaction Network
Click a node to explore
LRSAM1CEP55TSG101VPS28CALCOCO2STK25STK26
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6UWE0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.67–0.94]
RankingsWhere LRSAM1 stands among ~20K protein-coding genes
  • #6,177of 20,598
    Most Researched77
  • #848of 5,498
    Most Pathogenic Variants90 Β· top quartile
  • #8,800of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedLRSAM1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.
PMID: 33568173
Orphanet J Rare Dis Β· 2021
0.90
3
Erianin induces ferroptosis in GSCs via REST/LRSAM1 mediated SLC40A1 ubiquitination to overcome TMZ resistance.
PMID: 39039049
Cell Death Dis Β· 2024
0.80
4
LRSAM1 E3 ubiquitin ligase: molecular neurobiological perspectives linked with brain diseases.
PMID: 30826859
Cell Mol Life Sci Β· 2019
0.70
5
Linear ubiquitination at damaged lysosomes induces local NFKB activation and controls cell survival.
PMID: 39744815
Autophagy Β· 2025
0.60