PCYT1A - phosphate cytidylyltransferase 1A, choline
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]
NCBI Orthologs
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Protein alignment
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Species | Gene | Architecture | aa |
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