Aliases for CLTRN Gene
External Ids for CLTRN Gene
Previous HGNC Symbols for CLTRN Gene
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]
GeneCards Summary for CLTRN Gene
CLTRN (Collectrin, Amino Acid Transport Regulator) is a Protein Coding gene. Diseases associated with CLTRN include Aminoaciduria and Hartnup Disorder. Among its related pathways are Metabolism of proteins and Peptide hormone metabolism. An important paralog of this gene is ENSG00000285602.
UniProtKB/Swiss-Prot Summary for CLTRN Gene
Plays an important role in amino acid transport by acting as binding partner of amino acid transporters SLC6A18 and SLC6A19, regulating their trafficking on the cell surface and their amino acid transporter activity (By similarity). May also play a role in trafficking of amino acid transporters SLC3A1 and SLC7A9 to the renal cortical cell membrane (By similarity). Regulator of SNARE complex function (PubMed:16330323). Stimulator of beta cell replication (PubMed:16330323).