AFG1L (AFG1 like ATPase)

2018-07-01  

Identity

HGNC
LOCATION
6q21
LOCUSID
ALIAS
AFG1,LACE1,c222389

Other Information

Locus ID:

NCBI: 246269
MIM: 617469
HGNC: 16411
Ensembl: ENSG00000135537

Variants:

dbSNP: 246269
ClinVar: 246269
TCGA: ENSG00000135537
COSMIC: AFG1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135537ENST00000368977Q8WV93
ENSG00000135537ENST00000421954H0Y5F4
ENSG00000135537ENST00000431865H7C448
ENSG00000135537ENST00000437715A6ZJA2

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
182375522008Single nucleotide polymorphism C/T(-13910), located upstream of the lactase gene, associated with adult-type hypolactasia: validation for clinical practice.9
267593782016The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.9
273234082016LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis.4
208727682010An investigation of candidate regions for association with bipolar disorder.3

Citation

Dessen P

AFG1L (AFG1 like ATPase)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57583/afg1l-(afg1-like-atpase)