🧬 基因注释：COL10A1
📝 官方信息
官方名称：collagen type X alpha 1 chain
功能摘要：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].
🏥 关联疾病
该基因暂无关联疾病记录