SRPRA Chromosome 11
SRP receptor subunit alpha
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What This Gene Does
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]
Gene Info
Gene Group
Signal recognition particle GTPases
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000182934
Associated Conditions (2)
Shwachman-Diamond syndrome 1
Severe congenital neutropenia
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1950780024 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Severe congenital neutropenia, Shwachman-Diamond syndrome 1 |