Collagen IX Alpha 3 (COL9A3) Antibody – Rabbit Polyclonal

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]

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, signal peptide; Secreted

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: collagen catabolic process; extracellular matrix disassembly; axon guidance; extracellular matrix organization and biogenesis; male gonad development; female gonad development

Disease: Epiphyseal Dysplasia, Multiple, 3; Intervertebral Disc Disease