Search Thermo Fisher Scientific
This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: BAP; BiP-associated protein; homolog of yeast; Nucleotide exchange factor SIL1; SIL1 homolog, endoplasmic reticulum chaperone; SIL1 protein; SIL1-like protein endoplasmic reticulum chaperone
基因别名: BAP; MSS; SIL1; ULG5; UNQ545/PRO836
UniProt ID: (Human) Q9H173
Entrez Gene ID: (Human) 64374