- accession:NM_001282224
- 基因别名:ATP7A
- 基因描述:Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:4269
- 翻译后氨基酸长度:1422
- TranscriptVariant:This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. This variant is supported by data in PMIDs 7490081 and 10970802.
- 基因简介:This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
- 规格:10ul 质粒
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