EAW48240.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
66,158 Da
NCBI Official Full Name
collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)
NCBI Official Synonym Full Names
collagen, type X, alpha 1
NCBI Protein Information
collagen alpha-1(X) chain; collagen alpha-1(X) chain; collagen X, alpha-1 polypeptide; Schmid metaphyseal chondrodysplasia
UniProt Protein Name
Collagen alpha-1(X) chain
UniProt Entry Name
COAA1_HUMAN
NCBI Summary for COL10
This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]
UniProt Comments for COL10
COL10A1: Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage. Defects in COL10A1 are the cause of Schmid type metaphyseal chondrodysplasia (SMCD). SMCD is a dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity.
Protein type: Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 6q21-q22
Cellular Component: proteinaceous extracellular matrix; collagen; endoplasmic reticulum lumen; extracellular region; cell cortex
Molecular Function: metal ion binding
Biological Process: extracellular matrix disassembly; collagen catabolic process; extracellular matrix organization and biogenesis; cartilage development; skeletal development; endochondral ossification
Disease: Metaphyseal Chondrodysplasia, Schmid Type
Research Articles on COL10
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Pathways associated with COL10 elisa kit
Diseases associated with COL10 elisa kit
Organs/Tissues associated with COL10 elisa kit
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