Full name: family with sequence similarity 136 member A

Gene type: protein coding

RefSeq status: REVIEWED

Summary: This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

Expression: Ubiquitous expression in duodenum (RPKM 18.8), thyroid (RPKM 18.0) and 25 other tissues

Gene size: 6092bp

Exon count: 4