DISEASES

Disease-gene associations mined from literature

Literature associating RAB38 and oculocutaneous albinism

RAB38 [ENSP00000243662]

Ras-related protein Rab-38; May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with ANKRD27 and VAMP7 (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis . Plays an important role in the control of melanin production and melanosome biogenesis . In concert with RAB32, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). ; Belongs to the small GTPase superfamily. Rab family.

Synonyms:  RAB38,  RAB38p,  hRAB38,  A0A024R191,  H0YDB7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM