AFG1L

Chr 6

AFG1 like ATPase

Also known as: AFG1, LACE1, c222389

NCBI Gene: 246269 ENSG00000135537 UniProt: Q8WV93

The protein is a mitochondrial ATPase that regulates mitochondrial protein homeostasis by promoting degradation of excess nuclear-encoded respiratory chain complex IV subunits and maintaining normal function of respiratory complexes III and IV. Mutations cause autosomal recessive mitochondrial complex IV deficiency with early-onset leigh syndrome, affecting the central nervous system and energy metabolism. This gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.96

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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