PLOD2 Polyclonal Antibody, 100ul Supplements an autosomal recessive disorder characterized

an autosomal recessive disorder characterized by conjugated hyperbilirubinemia

7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10

Mutation in this gene was also observed in individuals with metacarpal 4-5 fusion

The protein is expressed in the photoreceptor layer of the retina| and the gene is mutated in autosomal recessive retinitis pigmentosa

This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells

PLOD2 Polyclonal Antibody, 100ul Supplements an autosomal recessive disorder characterizedThe protein encoded by this gene is a membrane bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers Danlos syndrome