Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
|
gptkbp:alternativeSplicing |
EDA-A1
EDA-A2 |
gptkbp:associatedWith |
X-linked hypohidrotic ectodermal dysplasia
|
gptkbp:foundIn |
gptkb:Homo_sapiens
|
gptkbp:function |
signaling protein
regulates ectodermal development |
gptkbp:gene |
gptkb:EDA
EDA gene |
gptkbp:HGNC_ID |
3158
|
https://www.w3.org/2000/01/rdf-schema#label |
Ectodysplasin A (EDA)
|
gptkbp:involves |
development of hair
development of sweat glands development of teeth |
gptkbp:locatedOnChromosome |
Xq12-q13.1
|
gptkbp:location |
gptkb:cell_membrane
|
gptkbp:molecularWeight |
~40 kDa
|
gptkbp:mutationAssociatedWith |
hypohidrotic ectodermal dysplasia
|
gptkbp:OMIM |
300451
|
gptkbp:orthologIn |
Mus musculus (mouse)
|
gptkbp:PDB |
1RJ7
|
gptkbp:postTranslationalModification |
cleavage
glycosylation |
gptkbp:proteinFamily |
tumor necrosis factor (TNF) family
|
gptkbp:recipient |
gptkb:EDAR
|
gptkbp:UniProtID |
Q92838
|
gptkbp:bfsParent |
gptkb:EDAR
|
gptkbp:bfsLayer |
6
|