COL10A1, Official Symbol COL10A1provided by HGNC Official Full Name collagen type X alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2185 See related Ensembl:ENSG00000123500 MIM:120110; AllianceGenome:HGNC:2185 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary 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] Expression Low expression observed in reference dataset See more Orthologs mouse all