ARL5B

Chr 10

ARF like GTPase 5B

Also known as: ARL8

NCBI Gene: 221079 ENSG00000165997 UniProt: Q96KC2 OMIM: 608909

ARL5B encodes a regulatory GTPase that binds and exchanges GTP and GDP, belonging to the ADP-ribosylation factor-like protein family within the RAS superfamily. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and brain abnormalities. The gene shows tolerance to loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.05

LOEUF

Multiple*

Mechanism· predicted