DISEASES

Disease-gene associations mined from literature

Literature on CCDC47

CCDC47 [ENSP00000225726]

Coiled-coil domain-containing protein 47; Involved in the regulation of calcium ion homeostasis in the endoplasmic reticulum . Required for proper protein degradation via the ERAD pathway . Has an essential role in the maintenance of endoplasmic reticulum organization during embryogenesis (By similarity).

Synonyms:  CCDC47,  CCDC47p,  hCCDC47,  A0A087WYW6,  J3KRX4 ...

Linkouts:  STRING  Pharos  UniProt