Collagen XI alpha 1 Polyclonal Antibody, 50ul Nucleic Acid Amplification Mutations in this gene are

Mutations in this gene are associated with Xeroderma pigmentosum B

Unlike other proteins of the group| which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes| the protein encoded by this gene is a non-cycling resident protein of the ER| where it functions as a cargo receptor for glycoproteins

Mutations in this gene are the cause of autosomal dominant Robinow syndrome

The NH2-terminus contains an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation

lung morphogenesis

Collagen XI alpha 1 Polyclonal Antibody, 50ul Nucleic Acid Amplification Mutations in this gene areThis gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants