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].
Losfeld, Ng, Kircher, Buckingham, Turner, Eroshkin, Smith, Shendure, Nickerson, Bamshad, Freeze: "A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex." in: Human molecular genetics, Vol. 23, Issue 6, pp. 1602-5, (2014) (PubMed).
Aliases for SSR4 抗体
signal sequence receptor subunit 4 (SSR4) 抗体 signal sequence receptor, delta (Ssr4) 抗体 signal sequence receptor subunit 4 (Ssr4) 抗体 AW743063 抗体 C78062 抗体 Trap 抗体 TRAPD 抗体