Collagen IX (COL9A1) (NM_078485) Human Recombinant Protein

• Background:

  This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

• Synonyms:

  DJ149L1.1.2; EDM6; MED; STL4

• Gene ID:

  1297

• UniProt:

  P20849

• Accession Number mRNA:

  NM_078485

• Chromosomal Location:

  6q13

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Function:

  Druggable Genome

• Molecular Weight:

  62 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  COL9A1

• Species:

  Human

• Protein ID:

  NP_511040

• Overview:

  Recombinant protein of human collagen, type IX, alpha 1 (COL9A1), transcript variant 2

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/1297

• Uniprot URL:

  https://www.uniprot.org/uniprot/P20849

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_078485

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_511040