VHL Polyclonal Antibody, 50ul[BT-AP15472] Antibody Humanization Mutations in this gene have

Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency

the most common form of syndromic deafness

Additional transcript variants of this gene have been described| but their full-length nature is not known

The protein encoded by TBC1D4 is a Rab-GTPase-activating protein

Variation at this gene has been observed in patients with absorptive hypercalciuria

VHL Polyclonal Antibody, 50ul[BT-AP15472] Antibody Humanization Mutations in this gene haveVon Hippel Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin 2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and