SRP68 Chromosome 17

Signal recognition particle 68
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012]
Gene Info
Gene Group
Signal recognition particle
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000167881
Associated Conditions (4)
Neutropenia
severe congenital
10
autosomal recessive
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2509675736 Health Risk Pathogenic Neutropenia, severe congenital, 10
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