HOOK2
Description
The HOOK2 (hook microtubule tethering protein 2) is a protein-coding gene located on chromosome 19.
HOOK2 is a protein that is encoded by the HOOK2 gene in humans. Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.
HOOK2 is a component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). HOOK2 contributes to the establishment and maintenance of centrosome function. It may function in the positioning or formation of aggresomes, which are pericentriolar accumulations of misfolded proteins, proteasomes and chaperones. The FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell.
HOOK2 is also known as HK2.
Associated Diseases
- type 2 diabetes mellitus
- hemoglobin D disease
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- retinitis pigmentosa and erythrocytic microcytosis
- hemoglobin E disease
- dominant beta-thalassemia
