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MGP000634

UniProt Annotations

Entry Information
Gene Namecollagen, type X, alpha 1
Protein EntryCOAA1_HUMAN
UniProt IDQ03692
SpeciesHuman
Comments
Comment typeDescription
DiseaseSchmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]: 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. {ECO:0000269|PubMed:15880705, ECO:0000269|PubMed:7607655, ECO:0000269|PubMed:7876225, ECO:0000269|PubMed:8004099, ECO:0000269|PubMed:8304336, ECO:0000269|PubMed:8782043, ECO:0000269|PubMed:9067753, ECO:0000269|PubMed:9852679}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionType X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.
PtmProlines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
SimilarityContains 1 C1q domain. {ECO:0000255|PROSITE- ProRule:PRU00368}.
Subcellular LocationSecreted, extracellular space, extracellular matrix {ECO:0000250}.
SubunitHomotrimer.
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