PCYT2 phosphate cytidylyltransferase 2, ethanolamine
Gene ID: 5833, updated on 27-Aug-2024Gene type: protein coding
Also known as: ET; SPG82
- See all available tests in GTR for this gene
- Go to complete Gene record for PCYT2
- Go to Variation Viewer for PCYT2 variants
Summary
This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Spastic paraplegia 82, autosomal recessive | See labs |
Genomic context
- Location:
- 17q25.3
- Sequence:
- Chromosome: 17; NC_000017.11 (81900958..81911399, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PCYT2 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
- Variation ViewerRelated Variants
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