DISEASES

Disease-gene associations mined from literature

CLTRN disease associations

CLTRN [ENSP00000369699]

Collectrin; 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 . Stimulator of beta cell replication .

Synonyms:  CLTRN,  A0A3B3ITM8,  Q9HBJ8,  Q9HBJ8p,  hQ9HBJ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM