Linked Life Data

Q8WWZ3

Source:http://identifiers.org/uniprot/Q8WWZ3

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
biopax3:comment
FUNCTION: Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF- kappa-B. SUBUNIT: Self-associates and binds EDAR, TRAF1, TRAF2 and TRAF3. SUBCELLULAR LOCATION: Cytoplasm (Probable). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q8WWZ3-1; Sequence=Displayed; Name=B; IsoId=Q8WWZ3-2; Sequence=VSP_003861; TISSUE SPECIFICITY: Detected in adult pancreas, placenta and fetal skin, and at lower levels in lung, thymus, prostate and testis. DISEASE: Defects in EDARADD are a cause of ectodermal dysplasia anhidrotic (EDA) [MIM:224900]; also known ectodermal dysplasia hypohidrotic autosomal recessive (HED). Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDA is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. SIMILARITY: Contains 1 death domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDARADD"; GENE SYNONYMS:EDARADD. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., SEQUENCE 215 AA; 24802 MW; 25C198E3CA1F68F2 CRC64;
biopax3:xref
biopax3:displayName
EDAD_HUMAN
biopax3:name
EDAR-associated death domain protein, EDARADD, Protein crinkled homolog
biopax3:organism
biopax3:sequence
MGLRTTKQMGRGTKAPGHQEDHMVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTITLNCPRNSDMKNQGEENGFPDSTGDPLPEISKDNSCKENCTCSSCLLRAPTISDLLNDQDLLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRPQSPTLEFLLRNSQRTVGQLMELCRLYHRADVEKVLRRWVDEEWPKRERGDPSRHF
biopax3:standardName
Ectodysplasin-A receptor-associated adapter protein