SGSM2

Chr 17

small G protein signaling modulator 2

Also known as: RUTBC1

NCBI Gene: 9905 ENSG00000141258 UniProt: O43147 OMIM: 611418

The encoded protein functions as a GTPase activator that inactivates RAB32, RAB33B, and RAB38, thereby regulating membrane trafficking and the transport of melanogenic enzymes to melanosomes in melanocytes. Mutations cause autosomal recessive oculocutaneous albinism, characterized by reduced pigmentation affecting the eyes and skin. This gene shows low constraint to loss-of-function variation.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.60

LOEUF

Multiple*

Mechanism· predicted