EDARADD

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:associatedWith hypohidrotic ectodermal dysplasia
gptkbp:encodes EDAR-associated death domain protein
gptkbp:Entrez_Gene_ID 15478
gptkbp:expressedIn gptkb:skin
sweat glands
hair follicles
gptkbp:fullName Ectodysplasin A receptor-associated adapter protein
gptkbp:function adaptor protein in TNF receptor signaling pathway
gptkbp:geneType protein-coding
gptkbp:HGNC_ID HGNC:14625
https://www.w3.org/2000/01/rdf-schema#label EDARADD
gptkbp:interactsWith gptkb:EDAR
gptkb:TRAF6
gptkbp:involvedIn ectodermal development
gptkbp:locatedOnChromosome chromosome 1
1q42-q43
gptkbp:mutationAssociatedWith abnormal hair, teeth, and sweat gland development
gptkbp:OMIM 606603
gptkbp:orthologInMouse Edaradd
gptkbp:UniProtID Q96BI3
gptkbp:bfsParent gptkb:EDAR
gptkbp:bfsLayer 6