HOOK2 Chromosome 19
Hook microtubule tethering protein 2
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What This Gene Does
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.[supplied by OMIM, Apr 2004]
Gene Info
Gene Group
"FHF complex|HOOK family"
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000095066
Associated Conditions (4)
Scoliosis
isolated
susceptibility to
1
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS897804 | Health Risk | Conflicting classifications of pathogenicity | Scoliosis, isolated, susceptibility to |