DISEASES

Disease-gene associations mined from literature

Literature associating SCAMP5 and atrial heart septal defect 1

SCAMP5 [ENSP00000355387]

Secretory carrier-associated membrane protein 5; Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) in case of endoplasmic reticulum stress by inhibiting the endocytosis pathway.

Synonyms:  SCAMP5,  SCAMP5p,  hSCAMP5,  A0A0A8K8F5,  H3BMY4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM