COL10A1

URI: https://gptkb.org/entity/COL10A1
GPTKB entity
Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:collagen_X
gptkb:collagen_type_X_alpha_chain
gptkbp:associatedWith gptkb:Schmid_metaphyseal_chondrodysplasia
gptkbp:discoveredBy gptkb:Mundlos_et_al.
gptkbp:encodes gptkb:collagen_type_X_alpha_1_chain_protein
gptkbp:Entrez_Gene_ID 1300
ENSG00000123500
gptkbp:expressedIn hypertrophic cartilage
gptkbp:fullName gptkb:collagen_type_X_alpha_1_chain
gptkbp:function involved in endochondral ossification
gptkbp:HGNC_ID gptkb:HGNC:2200
https://www.w3.org/2000/01/rdf-schema#label COL10A1
gptkbp:locatedOnChromosome 6
gptkbp:location gptkb:6q22.1
gptkbp:mutationAssociatedWith skeletal dysplasia
gptkbp:OMIM 120110
gptkbp:orthologInMouse gptkb:Col10a1
gptkbp:product gptkb:collagen_X
gptkbp:proteinFamily gptkb:collagen_gene_family
gptkbp:UniProtID gptkb:Q03692
gptkbp:bfsParent gptkb:EGR1
gptkbp:bfsLayer 6