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Protein Coding Gene : Pcyt1a phosphate cytidylyltransferase 1, choline, alpha isoform
Primary Identifier  MGI:88557 Organism  mouse, laboratory
Chromosome  16 NCBI Gene Number  13026
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

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; ear; genitourinary system; and integumental system. Human ortholog(s) of this gene implicated in spondylometaphyseal dysplasia with cone-rod dystrophy. Orthologous to human PCYT1A (phosphate cytidylyltransferase 1A, choline).
PHENOTYPE: Embryos homozygous for a targeted null mutation fail to form blastocysts, do not develop past E3.5, and fail to implant. [provided by MGI curators]
  • synonyms:
  • phosphate cytidylyltransferase 1, choline, alpha isoform,
  • CTP:phosphocholine cytidylyltransferase alpha,
  • MGD-MRK-2240,
  • CTalpha,
  • CTP phosphocholine cytidylyl transferase,
  • Cctalpha,
  • Ctpct,
  • Pcyt1a,
  • Cttalpha
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Features --> Cross References

Genome

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1 Involved In Mutations

Trail: ProteinCodingGene

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0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

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5 Pathways

Trail: ProteinCodingGene

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Expression

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Genes/Features --> Phenotypes (MP terms)

Disease

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