SSR4 signal sequence receptor subunit 4

Gene ID: 6748, updated on 3-Nov-2024
Gene type: protein coding
Also known as: CDG1Y; TRAPD

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital disorder of glycosylation MedGen: C0282577GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	See labs
SSR4-congenital disorder of glycosylation MedGen: C4012395OMIM: 300934GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	See labs

Genomic context

Location:: Xq28

Sequence:: Chromosome: X; NC_000023.11 (153794159..153798512)

Total number of exons:: 10

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SSR4 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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