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PCYT1A

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]
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Low cell type specificity

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (EFO-21)

Interaction

Homodimer.

Molecular function

Nucleotidyltransferase, Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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