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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
HAP1-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
HAP1-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
HAP1-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
HAP1-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
HAP1-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : HAP1
Gene Name : Huntingtin associated protein 1
Chromosome : CHR 17: 417,346,45-417,226,38
Locus : 17q21.2
Alt. Genes : RBM6
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