PCYT1A phosphate cytidylyltransferase 1A, choline
Gene ID: 5130, updated on 2-Nov-2024Gene type: protein coding
Also known as: CT; CTA; CCTA; CGL5; CTPCT; PCYT1; SMDCRD; CCTalpha
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- Go to complete Gene record for PCYT1A
- Go to Variation Viewer for PCYT1A variants
Summary
This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Lipodystrophy, congenital generalized, type 5 | not available |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | See labs |
Genomic context
- Location:
- 3q29
- Sequence:
- Chromosome: 3; NC_000003.12 (196234368..196287726, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PCYT1A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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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