SSR3 Chromosome 3

Signal sequence receptor subunit 3

1 variant 1 Health Risk

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What This Gene Does

The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010]

Gene Info

Gene Group

Translocon associated protein complex subunits

Locus Type

gene with protein product

Location

3q25.31

Ensembl

ENSG00000114850

Associated Conditions (1)

Congenital disorder of glycosylation

Key Variants

RS1719856599

Likely pathogenic

Congenital disorder of glycosylation, Congenital disorder of glycosylation

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1719856599	Health Risk	Likely pathogenic	Congenital disorder of glycosylation, Congenital disorder of glycosylation