|
Preferred Name |
HIP1 huntingtin interacting protein 1
|
|
Definition |
The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
|
Synonyms & Abbreviations |
SHON; HIP-I; ILWEQ; SHONbeta; SHONgamma
|
|
ReferenceCode |
Location: 7q11.23; Sequence: Chromosome: 7; NC_000007.14 (75533298..75738976, complement)
|
|
ReferenceURL |
https://www.ncbi.nlm.nih.gov/gtr/genes/3092/
|
|
PMID |
NA
|