- accession:NM_177977
- 基因别名:HLP; HAP2; HIP5; hHLP1
- 基因描述:Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:1860
- 翻译后氨基酸长度:619
- TranscriptVariant:This variant (2) represents the longer transcript and encodes the longer isoform (2).
- 基因简介:Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
- 规格:10ul 质粒
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