COL10A1

URI: https://gptkb.org/entity/COL10A1

GPTKB entity

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
gptkbp:locatedOnChromosome	6
gptkbp:location	gptkb:6q22.1
gptkbp:mutationAssociatedWith	gptkb: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
http://www.w3.org/2000/01/rdf-schema#label	COL10A1