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- accession：NM_006118
- 基因别名：HAX1
- 基因描述：Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.
- 载体：现货载体
- CDS区长度：840
- 翻译后氨基酸长度：279
- TranscriptVariant：This variant (1) represents the longer transcript and encodes the longer isoform (a).
- 基因简介：The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
