PCYT1A gene

phosphate cytidylyltransferase 1, choline, alpha

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Controls phosphatidylcholine synthesis.

From NCBI Gene:

  • Spondylometaphyseal dysplasia with cone-rod dystrophy

From UniProt:

Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD): A disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. [MIM:608940]

Cytogenetic Location: 3q29, which is the long (q) arm of chromosome 3 at position 29

Molecular Location: base pairs 196,237,745 to 196,287,752 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q29, which is the long (q) arm of chromosome 3 at position 29
  • CCTA
  • CT
  • CTA
  • CTPCT
  • PCYT1
  • SMDCRD