AFG1L, Official Symbol AFG1Lprovided by HGNC Official Full Name AFG1 like ATPaseprovided by HGNC Primary source HGNC:HGNC:16411 See related Ensembl:ENSG00000135537 MIM:617469; AllianceGenome:HGNC:16411 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AFG1; LACE1; c222389 Summary 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] Expression Broad expression in testis (RPKM 1.7), kidney (RPKM 1.0) and 25 other tissues See more Orthologs mouse all