ALS2 Polyclonal Antibody, 20ul Serum & Sample Tubes Mutations in PHKA1 cause glycogen

Mutations in PHKA1 cause glycogen storage disease type 9D

The chromobox 3 encoded by CBX3 binds DNA and is a component of heterochromatin

this effect was reversed with the expression of ectopic BCAS2

Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport

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ALS2 Polyclonal Antibody, 20ul Serum & Sample Tubes Mutations in PHKA1 cause glycogenThe protein encoded by this gene contains an ATS1 RCC1 like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics.