HIP1 Chromosome 7
Huntingtin interacting protein 1
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What This Gene Does
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]
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138232224 | Health Risk | Conflicting classifications of pathogenicity | — |