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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: CCT A; CCT-alpha; Choline-phosphate cytidylyltransferase A; CT A; CTP:phosphocholine cytidylyltransferase A; Phosphorylcholine transferase A
基因别名: CCTA; CT; CTA; CTPCT; PCYT1; PCYT1A; SMDCRD
UniProt ID: (Human) P49585
Entrez Gene ID: (Human) 5130
分子生物学功能: transferase