Entity Details

Primary name EDAD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WWZ3
EntryNameEDAD_HUMAN
FullNameEctodysplasin-A receptor-associated adapter protein
TaxID9606
Evidenceevidence at protein level
Length215
SequenceStatuscomplete
DateCreated2002-06-06
DateModified2021-06-02

Ontological Relatives

GenesEDARADD

GO terms

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GOName
GO:0005829 cytosol
GO:0007275 multicellular organism development
GO:0030154 cell differentiation
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:1901224 positive regulation of NIK/NF-kappaB signaling

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR000488 Death domainDomainDomain
IPR011029 Death-like domain superfamilyFamilyHomologous superfamily
IPR039200 Ectodysplasin-A receptor-associated adapter proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
614940 OMIMEctodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A)A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands. The disease is caused by variants affecting the gene represented in this entry.
614941 OMIMEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B)A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. The disease is caused by variants affecting the gene represented in this entry.