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Rabbit Anti-Collagen IX antibody
Type IX collagen proteoglycan is a major component of hyaline cartilages where it is located on the surface of the collagen fibrils so that a collagenous domain of the molecule (called COL 3) and a non-collagenous domain (called NC4) project at periodic distances away from the surface of the fibrils.
Function:
Structural component of hyaline cartilage and vitreous of the eye.
Subunit:
Heterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain.
Subcellular Location:
Secreted, extracellular space, extracellular matrix (By similarity).
Tissue Specificity:
Cytoplasmic
Post-translational modifications:
Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
DISEASE:
Multiple epiphyseal dysplasia 6 (EDM6) [MIM:614135]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
Contains 10 collagen-like domains.
Contains 1 laminin G-like domain.
SWISS:
P20849
Gene ID:
1297
Database links:
Entrez Gene: 1297 Human
Entrez Gene: 12839 Mouse
Entrez Gene: 305104 Rat
Omim: 120210 Human
SwissProt: P20849 Human
SwissProt: Q05722 Mouse
SwissProt: P20850 Rat
Unigene: 590892 Human
Unigene: 154662 Mouse
Unigene: 90726 Rat
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