PCYT1A

phosphate cytidylyltransferase 1A, choline

Ensembl:
ENSG00000161217
UniProt:
P49585
OMIM:
123695
Synonyms:
CCTALPHA, CT, CTPCT, PCYT1

Cilia effects upon perturbation of PCYT1A

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=418, lfc=0.90) PMID:30270045

Phenotypes

Human ciliopathy phenotype:
Spondylometaphyseal dysplasia - cone-rod dystrophy; spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Ciliopathy associations

  • Spondylometaphyseal Dysplasia

Subcellular localization

cytosol, nucleoplasm

Function

Mutations in PCYT1A cause Spondylometaphyseal Dysplasia (PMID: 24476460).