SRP19 Chromosome 5
Signal recognition particle 19
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What This Gene Does
Enables 7S RNA binding activity. Contributes to ribosome binding activity. Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition. Located in cytosol; nuclear body; and nucleolus. Part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Signal recognition particle
Locus Type
gene with protein product
Location
5q22.2
Ensembl
ENSG00000153037
Associated Conditions (2)
Shwachman-Diamond syndrome 1
Severe congenital neutropenia
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1322282571 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 1, Severe congenital neutropenia, Shwachman-Diamond syndrome 1 |