CRGC Rabbit Polyclonal Antibody, 100ul Drying & Desiccation a recessively inherited connective-tissue disorder

a recessively inherited connective-tissue disorder

Expressed mainly in the liver and in serum (at protein level)

Beta-citryl-glutamate synthase B catalyzes the synthesis of beta-citryl-L-glutamate and N-acetyl-L-aspartyl-L-glutamate

Dejerine-Sottas syndrome

CRGC Rabbit Polyclonal Antibody, 100ul Drying & Desiccation a recessively inherited connective-tissue disorderThis 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.