CRGC Rabbit Polyclonal Antibody, 100ul Drying & Desiccation Dejerine-Sottas syndrome

Dejerine-Sottas syndrome

and the skeletal muscle isoform is encoded by PHKA1 (phosphorylase kinase regulatory subunit alpha 1)

6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate

The gene is located in a cluster on chromosome 6

Enhances transcription activation by YY1

CRGC Rabbit Polyclonal Antibody, 100ul Drying & Desiccation Dejerine-Sottas syndromeThis gene encodes a member of the beta gamma crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract including Coppock like cataract and zonular pulverulent cataract among others.