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Protein Page:
COL9A2 (human)

COL9A2 Structural component of hyaline cartilage and vitreous of the eye. Defects in COL9A2 are the cause of multiple epiphyseal dysplasia type 2 (EDM2). EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM2 inheritance is autosomal dominant. Defects in COL9A2 may be a cause of susceptibility to intervertebral disc disease (IDD); also known as lumbar disk herniation (LDH). IDD is one of the most common musculo-skeletal disorders and the predominant cause of low-back pain and unilateral leg pain. Defects in COL9A2 are the cause of Stickler syndrome type 5 (STL5). An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 1p33-p32
Cellular Component: endoplasmic reticulum lumen; extracellular region
Molecular Function: extracellular matrix structural constituent conferring tensile strength
Biological Process: extracellular matrix organization and biogenesis; skeletal development
Disease: Epiphyseal Dysplasia, Multiple, 2; Intervertebral Disc Disease; Stickler Syndrome, Type V
Reference #:  Q14055 (UniProtKB)
Alt. Names/Synonyms: alpha 2 type IX collagen; CO9A2; COL9A2; Collagen alpha-2(IX) chain; collagen IX, alpha-2 polypeptide; collagen, type IX, alpha 2; DJ39G22.4; EDM2; MED
Gene Symbols: COL9A2
Molecular weight: 65,131 Da
Basal Isoelectric point: 9.23  Predict pI for various phosphorylation states
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