{"symbol":"PCYT1A","synonyms":["CTPCT","CTA","CCTA","PCYT1","SMDCRD"],"name":"phosphate cytidylyltransferase 1, choline, alpha","description":"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]","ncbiEntrezGeneId":5130,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5130","proteins":[{"symbol":"PCY1A_HUMAN","href":"/api/1.0/protein/PCY1A_HUMAN"}],"hgncRootFamilies":[]}