DISEASES

Disease-gene associations mined from literature

Literature on SGSM2

SGSM2 [ENSP00000268989]

Small G protein signaling modulator 2; Possesses GTPase activator activity towards RAB32, RAB33B and RAB38 . Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation . ; Belongs to the RUTBC family.

Synonyms:  SGSM2,  SGSM2p,  hSGSM2,  B9A6J3,  I3L1Y7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM