CRYL1 Rabbit Polyclonal Antibody, 100ul Sampling Tubes Mutations in this gene cause

Mutations in this gene cause Alexander disease

subcellular location:Colocalizes with endosomes

Two alternatively spliced variants encoding distinct isoforms have been described

an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline

and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I

CRYL1 Rabbit Polyclonal Antibody, 100ul Sampling Tubes Mutations in this gene causeThe uronate cycle functions as an alternative glucose metabolic pathway accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L gulonate into dehydro L gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye.