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Antibody detects endogenous levels of total PCYT1A.
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