Pcyt1a - phosphate cytidylyltransferase 1, choline, alpha isoform

Enables choline-phosphate cytidylyltransferase activity. Involved in CDP-choline pathway. Located in endoplasmic reticulum membrane and glycogen granule. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in spondylometaphyseal dysplasia with cone-rod dystrophy. Orthologous to human PCYT1A (phosphate cytidylyltransferase 1A, choline). [provided by Alliance of Genome Resources, Apr 2022]