Collagen XVIII alpha 1(Cleaved-His1572) Rabbit Polyclonal Antibody, 100ul Site-directed Mutagenesis Defects in this enzyme are

Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis

Two alternatively spliced transcript variants have been found for this gene

The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region

Several transcript variants encoding different isoforms have been found for MARK3

Collagen XVIII alpha 1(Cleaved-His1572) Rabbit Polyclonal Antibody, 100ul Site-directed Mutagenesis Defects in this enzyme areThis gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins extracellular matrix proteins that contain multiple triple helix domains (collagenous domains) interrupted by non collagenous domains. A long isoform of the protein has an N terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C terminal domain results in