background:
This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]
Function:
Huntington’s disease is caused by an expanded CAG trinucleotide repeat coding for a polyglutamine stretch within the huntingtin protein. Huntingtin co-purifies with a single novel 40 kDa protein designated HAP40. Recombinant HAP40 is cytoplasmic in the presence of huntingtin but is actively targeted to the nucleus in the absence of huntingtin. These observations suggest that HAP40 contributes to the function of normal huntingtin and is a candidate for involvement in the aberrant nuclear localization of mutant huntingtin found in degenerating neurons in Huntington’s disease.
Subcellular Location:
Nuclear.
Database links:
Entrez Gene: 474383 Human
Entrez Gene: 474384 Human
Entrez Gene: 8263 Human
Omim: 305423 Human
SwissProt: P23610 Human
Unigene: 533543 Human
Unigene: 731793 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
