SRPRA

Chr 11

SRP receptor subunit alpha

Also known as: DP, SRPR, Sralpha

NCBI Gene: 6734 ENSG00000182934 UniProt: P08240

The protein is a subunit of the endoplasmic reticulum signal recognition particle receptor that ensures correct targeting of nascent secretory and membrane proteins to the ER membrane system through GTP-dependent interactions with SRP54. Mutations cause autosomal recessive intellectual developmental disorder with seizures, hypotonia, and brain abnormalities, with onset typically in infancy or early childhood. The gene is highly constrained against loss-of-function variants (LOEUF 0.39), indicating that complete loss of function is poorly tolerated.

ResearchSummary from RefSeq, UniProt

The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

ResearchGenerating clinical summary…

Clinical highlights

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)

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P/LP submissions

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P/LP missense

0.39

LOEUF

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Mechanism

Some data sources returned errors (1)

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