PLOD2 Polyclonal Antibody, 50ul PCR Series Disease-associated mutations tend to be

Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product

ALK/TPM4 (chromosome 19)

This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling

This gene is intronless and is expressed primarily in the frontal cortex of the brain

also known as X-linked West syndrome

PLOD2 Polyclonal Antibody, 50ul PCR Series Disease-associated mutations tend to beThe 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