SSR4 gene

signal sequence receptor subunit 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.

From NCBI Gene:

  • Congenital disorder of glycosylation type 1y

From UniProt:

Congenital disorder of glycosylation 1Y (CDG1Y): A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. [MIM:300934]

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28

Molecular Location: base pairs 153,794,175 to 153,798,512 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28
  • CDG1Y
  • TRAPD