HOOK3 Chromosome 8

Hook microtubule tethering protein 3

1 variant 1 Health Risk

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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

8p11.21

Ensembl

ENSG00000168172

Associated Conditions (1)

Short stature

Key Variants

RS1563293555

Likely pathogenic

Short stature, Short stature

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1563293555	Health Risk	Likely pathogenic	Short stature, Short stature