C1GALT1C1 C1GALT1 specific chaperone 1
Gene ID: 29071, updated on 2-Nov-2024Gene type: protein coding
Also known as: TNPS; AHUS8; COSMC; MST143; C1GALT2; HSPC067; C38H2-L1
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- Go to complete Gene record for C1GALT1C1
- Go to Variation Viewer for C1GALT1C1 variants
Summary
This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature | not available |
| Polyagglutinable erythrocyte syndrome | See labs |
Genomic context
- Location:
- Xq24
- Sequence:
- Chromosome: X; NC_000023.11 (120625674..120630054, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for C1GALT1C1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- C1GALT1C1 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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