DISEASES

Disease-gene associations mined from literature

Literature associating RAB6A and Carpenter syndrome

RAB6A [ENSP00000311449]

Ras-related protein Rab-6A; Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic reticulum (ER). Has a low GTPase activity. Involved in COPI-independent retrograde transport from the Golgi to the ER ; Belongs to the small GTPase superfamily. Rab family.

Synonyms:  RAB6A,  RAB6Ap,  hRAB6A,  A0A024R5H8,  A0A024R5J5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM