rs137852655
This is a variant in the COMP gene that changes a glycine to an aspartate.
▶ClinVar annotation
Multiple epiphyseal dysplasia type 1; Pseudoachondroplasia, severe; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (PSACH)
View on ClinVar →About COMP
The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]
View all COMP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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