COL10A1

Chr 6

collagen type X alpha 1 chain

NCBI Gene: 1300 ENSG00000123500 UniProt: Q03692

The protein is the alpha chain of type X collagen, a homotrimeric short chain collagen produced by hypertrophic chondrocytes during endochondral bone formation and localized to mineralization zones of cartilage. Mutations cause Schmid type metaphyseal chondrodysplasia, a skeletal dysplasia affecting bone and cartilage development. Inheritance is autosomal dominant.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSchmid type metaphyseal chondrodysplasia

Clinical highlights

Gene-disease validity (ClinGen)

Schmid metaphyseal chondrodysplasia · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

120

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.94

LOEUF

Mechanism· G2P

Some data sources returned errors (1)

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