RAB40AL

Chr X

RAB40A like

Also known as: MRXSMP, RAR2, RLGP

NCBI Gene: 282808 ENSG00000102128 UniProt: P0C0E4

The protein functions as a Rab small GTPase that regulates intracellular membrane trafficking and may serve as a substrate-recognition component of an E3 ubiquitin ligase complex that targets proteins for degradation. Mutations in this gene are associated with Duchenne muscular dystrophy, which primarily affects skeletal and cardiac muscle with onset typically in early childhood. The gene shows relatively low constraint to loss-of-function variation (pLI 0.31, LOEUF 1.87).

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

X-linked syndromic intellectual disability · XLRefutedevidence has disproved this relationship

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.86

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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