Full name: collectrin, amino acid transport regulator

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: NX-17; NX17; TMEM27

Summary: This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]

Expression: Biased expression in kidney (RPKM 116.5) and liver (RPKM 8.9)

Gene size: 48327bp

Exon count: 8