COL10A1

collagen type X alpha 1 chain

Ensembl:: ENSG00000123500
UniProt:: Q03692
OMIM:: 120110

Cilia effects upon perturbation of COL10A1

Ciliogenesis screen results (4 screens)

Kim2016: Not Reported
Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

Spondylometaphyseal Dysplasia

Subcellular localization

endoplasmic reticulum

Function

Mutations in COL10A1 cause Spondylometaphyseal Dysplasia (PMID: 8361538).

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