huntingtin-associated protein 1 (neuroan 1) | |||||||
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Identifiers | |||||||
Symbol | HAP1 | ||||||
Alt. symbols | HAP2 | ||||||
NCBI gene | 9001 | ||||||
HGNC | 4812 | ||||||
OMIM | 600947 | ||||||
RefSeq | NM_003949 | ||||||
UniProt | P54257 | ||||||
Other data | |||||||
Locus | Chr. 17 q21.2-21.3 | ||||||
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Huntingtin-associated protein 1 (HAP1) is a protein which in humans is encoded by the HAP1 gene.[1][2] This protein was found to bind to the mutant huntingtin protein (mHtt) in proportion to the number of glutamines present in the glutamine repeat region.
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 (HGS). The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport.[3]