人 BTK (NM_001287345) cDNA克隆

Accession: NM_001287345
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 2, mRNA.
种属: Human
CDS区长度: 1452 (查看编码区序列)
翻译后氨基酸长度: 483 (查看氨基酸序列)
Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and lacks several exons in the 3' CDS compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
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G123111 人 BTK (NM_001287345) 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]