HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AFG1L
AFG1 like ATPase
Chromosome 6 · 6q21
NCBI Gene: 246269Ensembl: ENSG00000135537.18HGNC: HGNC:16411UniProt: Q8WV93
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrial protein catabolic processmitochondrial protein quality controlmitochondrionPhlebitisidiopathic pulmonary arterial hypertensionThrombophlebitissecondary malignant neoplasm
✦AI Summary

AFG1L (AFG1 like ATPase) is a mitochondrial integral membrane protein that functions as an AAA-ATPase with critical roles in mitochondrial protein quality control and apoptosis. Structurally, AFG1L exists as part of multi-subunit complexes (~140-500 kDa) and requires an intact ATPase domain for its catalytic activities 1. Functionally, AFG1L mediates degradation of excess nuclear-encoded respiratory complex IV subunits (COX4I1, COX5A, COX6A1) and is essential for maintaining normal activity of complexes III and IV 1. Beyond protein degradation, AFG1L promotes mitochondrial morphology organization, maintaining fused mitochondrial reticulum and lamellar cristae structure 1. AFG1L also mediates transcription-independent apoptosis by facilitating p53 translocation into mitochondria in response to genotoxic stress 2. Disease relevance includes associations with breast cancer prognosis, where higher AFG1L expression correlates with poorer outcomes in a mitochondria-related prognostic model 3. Additionally, AFG1L has been identified as a candidate gene in atopic dermatitis and psoriasis 4, and copy number variations in AFG1L are associated with dementia risk 5. These findings establish AFG1L as a multifunctional mitochondrial protein linking bioenergetic homeostasis to cell death regulation.

Sources cited
1
AFG1L (LACE1) is a mitochondrial ATPase that mediates degradation of nuclear-encoded complex IV subunits and maintains respiratory chain function and mitochondrial morphology
PMID: 26759378
2
AFG1L (LACE1) promotes p53 mitochondrial translocation and transcription-independent apoptosis in response to genotoxic stress
PMID: 27323408
3
AFG1L is part of a mitochondria-related prognostic model for breast cancer where higher expression associates with poorer prognosis
PMID: 35707265
4
AFG1L is identified as a candidate target gene for GWAS variants associated with atopic dermatitis and psoriasis
PMID: 33069716
5
AFG1L copy number variations are associated with dementia risk in Turkish dementia cohort analysis
PMID: 34321086
Disease Associationsⓘ20
PhlebitisOpen Targets
0.26Weak
idiopathic pulmonary arterial hypertensionOpen Targets
0.25Weak
ThrombophlebitisOpen Targets
0.23Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.23Weak
secondary malignant neoplasmOpen Targets
0.23Weak
polycythemia veraOpen Targets
0.18Weak
Griscelli diseaseOpen Targets
0.09Suggestive
Griscelli disease type 3Open Targets
0.09Suggestive
Griscelli syndrome type 3Open Targets
0.09Suggestive
ringed hair diseaseOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
uncombable hair syndromeOpen Targets
0.08Suggestive
Microcephaly - albinism - digital anomaliesOpen Targets
0.06Suggestive
microcephaly-albinism-digital anomalies syndromeOpen Targets
0.06Suggestive
oculocutaneous albinism type 3Open Targets
0.06Suggestive
pili bifurcatiOpen Targets
0.06Suggestive
Griscelli disease type 1Open Targets
0.06Suggestive
Griscelli syndrome type 1Open Targets
0.06Suggestive
Tietz syndromeOpen Targets
0.05Suggestive
Tietze syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPATA18Shared pathway50%ATAD3CShared pathway50%PYROXD2Shared pathway50%ATAD3BShared pathway50%GABPB1Shared pathway50%NIPSNAP2Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Brain
59%
Liver
46%
Bone Marrow
43%
Ovary
29%
Lung
24%
Gene Interaction Network
Click a node to explore
AFG1LSPATA18ATAD3CPYROXD2ATAD3BGABPB1NIPSNAP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WV93
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.47–1.02]
RankingsWhere AFG1L stands among ~20K protein-coding genes
  • #13,135of 20,598
    Most Researched24
  • #9,972of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedAFG1L
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Breast Cancer Prognosis Prediction and Immune Pathway Molecular Analysis Based on Mitochondria-Related Genes.
PMID: 35707265
Genet Res (Camb) · 2022
1.00
2
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes.
PMID: 33069716
J Allergy Clin Immunol · 2021
0.80
3
A comprehensive analysis of copy number variation in a Turkish dementia cohort.
PMID: 34321086
Hum Genomics · 2021
0.60
4
The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.
PMID: 26759378
Biochem J · 2016
0.40
5
LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis.
PMID: 27323408
Oncotarget · 2016
0.20