NCBI and Uniprot Product Information
NCBI Description
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 Description
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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Product Notes
The Human COL10 col10a1 (Catalog #AAA032637) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA032637 ELISA Kit recognizes Human COL10. It is sometimes possible for the material contained within the vial of "Collagen Type X, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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