Gene Symbol | SSR4 |
Entrez Gene ID | 6748 |
Full Name | signal sequence receptor subunit 4 |
Synonyms | CDG1Y,TRAPD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type Iy, 300934 (3) |