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

Mutations in PHKA1 cause glycogen storage disease type 9D

The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45

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

The function of this protein is unknown

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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.