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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.
GFER
growth factor, augmenter of liver regeneration
Chromosome 16 Β· 16p13.3
NCBI Gene: 2671Ensembl: ENSG00000127554.13HGNC: HGNC:4236UniProt: P55789
127PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein-disulfide reductase activityflavin adenine dinucleotide bindingmitochondrial disulfide relay systemcongenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeCongenital cataract - progressive muscular hypotonia - hearing loss - developmental delayneurodegenerative diseasemitochondrial disease
✦AI Summary

GFER (growth factor, augmenter of liver regeneration) is a FAD-dependent sulfhydryl oxidase functioning as a critical regulator of mitochondrial redox homeostasis. The protein exists in multiple isoforms: long forms localized to the inner mitochondrial space cooperate with Mia40 to ensure proper protein folding during mitochondrial protein import, while short cytosolic forms exhibit anti-apoptotic and anti-oxidative properties 1. GFER operates within the CHCHD4/GFER disulfide relay system in the mitochondrial intermembrane space, where it maintains intracellular iron homeostasis through interaction with PCBP1 and supports PINK1 accumulation necessary for mitophagy 2. Beyond its classical liver regeneration function, GFER demonstrates tissue-specific roles in disease regulation: in ulcerative colitis, GFER downregulation promotes ferroptosis in intestinal epithelial cells, while GFER overexpression inhibits ferroptosis markers and alleviates inflammation 3. In pancreatic adenocarcinoma, GFER depletion disrupts redox homeostasis and stimulates anti-tumor immunity via the cGAS-STING pathway 4. Loss-of-function GFER mutations cause mitochondrial encephalomyopathy with congenital cataracts, hearing loss, and developmental delay 5. A GFER polymorphism (rs1046495) confers protective effects against type 2 diabetes by optimizing ROS levels in the electron transport chain 6. GFER also associates with idiopathic pulmonary fibrosis pathogenesis 7. These findings establish GFER as a multifunctional mitochondrial protein with therapeutic implications across inflammatory, neoplastic, and metabolic diseases.

Sources cited
1
GFER encodes ALR protein with multiple isoforms; long forms in mitochondrial intermembrane space cooperate with Mia40 for protein folding; short cytosolic forms have anti-apoptotic and anti-oxidative properties
PMID: 30579845
2
CHCHD4/GFER disulfide relay system required for PINK1 stabilization and mitophagy; dysregulation in ALS-related SOD1 mutants impairs PINK1 accumulation
PMID: 32779864
3
GFER downregulated in ulcerative colitis intestinal epithelial cells; GFER overexpression inhibits ferroptosis markers and inflammatory damage; interacts with PCBP1 to maintain iron homeostasis
PMID: 41098076
4
GFER is mitochondrial FAD-dependent sulfhydryl oxidase essential for PDAC tumor growth; GFER depletion perturbs redox homeostasis and activates cGAS-STING pathway, enhancing immune checkpoint blockade response
PMID: 41329747
5
GFER mutations cause mitochondrial encephalomyopathy with congenital cataracts, hypotonia, developmental delay, sensorineural hearing loss, and adrenal insufficiency
PMID: 26018198
6
GFER polymorphism rs1046495 protective against type 2 diabetes; maintains optimal ROS levels in electron transport chain complexes III and IV through glutathionation
PMID: 35352250
7
GFER associated with idiopathic pulmonary fibrosis pathogenesis in Mendelian randomization analysis of mitochondria-related genes
PMID: 39952317
8
GFER identified as hub gene related to energy metabolism in platelet transcriptome of NSTEMI patients
PMID: 34017580
Disease Associationsβ“˜21
congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeOpen Targets
0.76Strong
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delayOpen Targets
0.73Strong
neurodegenerative diseaseOpen Targets
0.56Moderate
mitochondrial diseaseOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.47Moderate
Intellectual disabilityOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.25Weak
liver diseaseOpen Targets
0.13Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
acute kidney injuryOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.08Suggestive
non-alcoholic steatohepatitisOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
polycystic ovary syndromeOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
obesityOpen Targets
0.05Suggestive
ulcerative colitisOpen Targets
0.04Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.04Suggestive
atherosclerosisOpen Targets
0.04Suggestive
COVID-19Open Targets
0.04Suggestive
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delayUniProt
Pathogenic Variants9
NM_005262.3(GFER):c.581G>A (p.Arg194His)Pathogenic
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 194
NM_005262.3(GFER):c.566C>G (p.Ser189Ter)Pathogenic
Inborn genetic diseases|Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 189
NM_005262.3(GFER):c.226G>T (p.Asp76Tyr)Likely pathogenic
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
β˜…β˜†β˜†β˜†2026β†’ Residue 76
NM_005262.3(GFER):c.559G>T (p.Asp187Tyr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 187
NM_005262.3(GFER):c.502C>T (p.Gln168Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 168
NM_005262.3(GFER):c.217del (p.Ala73fs)Pathogenic
not provided|Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
β˜…β˜†β˜†β˜†2017β†’ Residue 73
NM_005262.3(GFER):c.259-25_259-24delLikely pathogenic
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
β˜…β˜†β˜†β˜†2014
NM_005262.3(GFER):c.219del (p.Cys74fs)Pathogenic
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 74
NM_005262.3(GFER):c.575A>G (p.Asp192Gly)Pathogenic
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
β˜†β˜†β˜†β˜†β†’ Residue 192
View on ClinVar β†—
Related Genes
DBPShared pathway100%TIMM10Protein interaction100%POU5F1Protein interaction100%TIMM9Protein interaction100%SAV1Protein interaction99%CHCHD4Protein interaction94%
Tissue Expression6 tissues
Liver
100%
Brain
78%
Lung
52%
Heart
45%
Bone Marrow
45%
Ovary
37%
Gene Interaction Network
Click a node to explore
GFERDBPTIMM10POU5F1TIMM9SAV1CHCHD4
PROTEIN STRUCTURE
Preparing viewer…
PDB3U5S Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.41 [1.02–1.87]
RankingsWhere GFER stands among ~20K protein-coding genes
  • #3,689of 20,598
    Most Researched127 Β· top quartile
  • #2,934of 5,498
    Most Pathogenic Variants9
  • #17,017of 17,882
    Most Constrained (LOEUF)1.87
Genes detectedGFER
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Single-Cell Transcriptomics Unravels Growth Factor Erv1-Like Mediated Ferroptosis as a Key Driver of Intestinal Epithelial Dysfunction in Ulcerative Colitis.
PMID: 41098076
Adv Sci (Weinh) Β· 2025
1.00
2
GFER Represents a Target for Dual Disruption of Redox Homeostasis and Reactivation of the Immune Response in Pancreatic Adenocarcinoma.
PMID: 41329747
Cancer Res Β· 2026
0.90
3
Identification of key gene modules and pathways of human platelet transcriptome in acute myocardial infarction patients through co-expression network.
PMID: 34017580
Am J Transl Res Β· 2021
0.80
4
Dependence of PINK1 accumulation on mitochondrial redox system.
PMID: 32779864
Aging Cell Β· 2020
0.70
5
Augmenter of liver regeneration: Essential for growth and beyond.
PMID: 30579845
Cytokine Growth Factor Rev Β· 2019
0.60