pcyt-1 encodes a lipid-activated CTP:phosphocholine cytidylyltransferase (CCT), with CCT activity in vitro; recombinant PCYT-1 is most activated by a 1:1 mixture of phosphatidylcholine:oleate vesicles; an inhibitory 21-residue segment (residues 246-266) is critical for specific activation of PCYT-1 by lipids, since deletion or mutation of this segment causes PCYT-1 to be constitutively active without its normal lipid substrate.
Enables choline-phosphate cytidylyltransferase activity. Involved in phosphatidylcholine biosynthetic process. Expressed in head. Human ortholog(s) of this gene implicated in spondylometaphyseal dysplasia with cone-rod dystrophy. Is an ortholog of human PCYT1A (phosphate cytidylyltransferase 1A, choline) and PCYT1B (phosphate cytidylyltransferase 1B, choline).
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.