人 BTK (NM_001287344) cDNA克隆

Accession: NM_001287344
基因名称: BTK
基因别名: AT; ATK; BPK; XLA; IMD1; AGMX1; PSCTK1
基因描述: Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), transcript variant 3, mRNA.
种属: Human
CDS区长度: 2082 (查看编码区序列)
翻译后氨基酸长度: 693 (查看氨基酸序列)
Transcript Variant: This variant (3) differs in the 5' UTR and CDS, and represents the use of an alternate promoter, compared to variant 1. The resulting protein (isoform 3) has a longer N-terminus, compared to isoform 1.
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G123110 人 BTK (NM_001287344) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]