RPN2 Chromosome 20

Ribophorin II

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Gene Info

Gene Group

Oligosaccharyltransferase complex subunits

Locus Type

gene with protein product

Location

20q11.23

Ensembl

ENSG00000118705

Associated Conditions (1)

Congenital disorder of glycosylation

Key Variants

RS144538512

Conflicting classifications of pathogenicity

Congenital disorder of glycosylation, Congenital disorder of glycosylation

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS144538512	Health Risk	Conflicting classifications of pathogenicity	Congenital disorder of glycosylation, Congenital disorder of glycosylation