EAW75334.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
63,616 Da
NCBI Official Full Name
collagen, type IX, alpha 3, isoform CRA_b
NCBI Official Synonym Full Names
collagen, type IX, alpha 3
NCBI Protein Information
collagen alpha-3(IX) chain
UniProt Protein Name
Collagen alpha-3(IX) chain
UniProt Entry Name
CO9A3_HUMAN
NCBI Summary for COL9a3
This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
UniProt Comments for COL9a3
COL9A3: Structural component of hyaline cartilage and vitreous of the eye. Defects in COL9A3 are the cause of multiple epiphyseal dysplasia type 3 (EDM3); also known as multiple epiphyseal dysplasia with myopathy. 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. Defects in COL9A3 are a cause of susceptibility to intervertebral disk disease (IDD). A common musculo- skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. Susceptibility to intervertebral disk disease, is conferred by variant p.Arg103Trp (PubMed:11308397). Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 20q13.3
Cellular Component: proteinaceous extracellular matrix; endoplasmic reticulum lumen; extracellular region
Molecular Function: extracellular matrix structural constituent conferring tensile strength
Biological Process: extracellular matrix disassembly; axon guidance; collagen catabolic process; extracellular matrix organization and biogenesis; male gonad development; female gonad development
Disease: Epiphyseal Dysplasia, Multiple, 3; Intervertebral Disc Disease
Research Articles on COL9a3
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Products associated with COL9a3 elisa kit
Pathways associated with COL9a3 elisa kit
Diseases associated with COL9a3 elisa kit
Organs/Tissues associated with COL9a3 elisa kit
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