pcdna3tyr BioVector NTCC质粒载体菌种细胞基因保藏中心

pcdna3tyr BioVector NTCC质粒载体菌种细胞基因保藏中心
Human TYRosinase (oculocutaneous albinism IA) (TYR)
RefSeq: NM_000372.3, NP_000363
RefSeq Size: 1964 RefSeq ORF: 1590
Synonyms : ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3
LocusID: 7299 Cytogenetic: 11q14.3
Summary: The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008].
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