Disease-gene associations mined from literature

Literature associating BCAP31 and creatine transporter deficiency

BCAP31 [ENSP00000392330]

B-cell receptor-associated protein 31; Functions as a chaperone protein. Is one of the most abundant endoplasmic reticulum (ER) proteins. Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD). Also serves as a cargo receptor for the export of transmembrane proteins. May be involved in CASP8- mediated apoptosis.

Synonyms:  BCAP31,  BCAP31p,  hBCAP31,  C9J0M4,  C9JM14 ...

Linkouts:  STRING  Pharos  UniProt  OMIM