- 商品货号:G120345
- accession:NM_007297
- 基因别名:BRCA1
- 基因描述:Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 3, mRNA.
- 载体:现货载体
- CDS区长度:5451
- 翻译后氨基酸长度:1816
- TranscriptVariant:This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translational start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.
- 基因简介:This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]
- 规格:10ul 质粒
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