ATP7B基因表达质粒/慢病毒质粒/沉默干扰质粒载体 BioVector NTCC质粒载体菌种细胞基因保藏中心

ATP7B基因表达质粒/慢病毒质粒/沉默干扰质粒载体 BioVector NTCC质粒载体菌种细胞基因保藏中心
Human ATPase, Cu++ transporting, beta polypeptide (ATP7B)
RefSeq: NM_000053.2, NP_000044
RefSeq Size: 6644 RefSeq ORF: 4398
Synonyms : PWD; WC1; WD; WND
LocusID: 540 Cytogenetic: 13q14.3 Domains: E1-E2_ATPase, Hydrolase, HMA
Summary: This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD).
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