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{
"metadata": {
"accession": "IPR034052",
"entry_id": null,
"type": "domain",
"go_terms": null,
"source_database": "interpro",
"member_databases": {
"cdd": {
"cd13421": "Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)"
}
},
"integrated": null,
"hierarchy": {
"accession": "IPR034052",
"name": "Tumor necrosis factor receptor EDAR, N-terminal",
"type": "Domain",
"children": []
},
"name": {
"name": "Tumor necrosis factor receptor EDAR, N-terminal",
"short": "EDAR_N"
},
"description": [
{
"text": "<p>Ectodysplasin A receptor (EDAR, also known as DL, ED3, ED5, ED1R, EDA3, HRM1, EDA1R, ECTD10A, ECTD10B, EDA-A1R) binds the soluble ligand ectodysplasin A and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives [[cite:PUB00082500]]. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia [[cite:PUB00082501]]. Patients present defects in the development of ectoderm-derived structures resulting in sparse hair, too few teeth (oligodontia), the absence or reduction in the ability to sweat as well as problems with mucous and saliva and the production and formation of pigment cells [[cite:PUB00082502]].</p>",
"llm": false,
"checked": false,
"updated": false
},
{
"text": "<p>This entry represents the N-terminal domain of EDAR.</p>",
"llm": false,
"checked": false,
"updated": false
}
],
"wikipedia": null,
"literature": {
"PUB00082502": {
"PMID": 21724465,
"ISBN": null,
"volume": "17",
"issue": "9",
"year": 2011,
"title": "Disease causing mutations in the TNF and TNFR superfamilies: Focus on molecular mechanisms driving disease.",
"URL": null,
"raw_pages": "494-505",
"medline_journal": "Trends Mol Med",
"ISO_journal": "Trends Mol Med",
"authors": [
"Lobito AA",
"Gabriel TL",
"Medema JP",
"Kimberley FC."
],
"DOI_URL": "http://dx.doi.org/10.1016/j.molmed.2011.05.006"
},
"PUB00082500": {
"PMID": 16382675,
"ISBN": null,
"volume": "10",
"issue": "3",
"year": 2005,
"title": "Edar signaling in the control of hair follicle development.",
"URL": null,
"raw_pages": "247-51",
"medline_journal": "J Investig Dermatol Symp Proc",
"ISO_journal": "J. Investig. Dermatol. Symp. Proc.",
"authors": [
"Botchkarev VA",
"Fessing MY."
],
"DOI_URL": "http://dx.doi.org/10.1111/j.1087-0024.2005.10129.x"
},
"PUB00082501": {
"PMID": 16435307,
"ISBN": null,
"volume": "27",
"issue": "3",
"year": 2006,
"title": "Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.",
"URL": null,
"raw_pages": "255-9",
"medline_journal": "Hum Mutat",
"ISO_journal": "Hum. Mutat.",
"authors": [
"Chassaing N",
"Bourthoumieu S",
"Cossee M",
"Calvas P",
"Vincent MC."
],
"DOI_URL": "http://dx.doi.org/10.1002/humu.20295"
}
},
"set_info": null,
"overlaps_with": null,
"counters": {
"subfamilies": 0,
"domain_architectures": 0,
"interactions": 0,
"matches": 695,
"pathways": 2,
"proteins": 695,
"proteomes": 542,
"sets": 0,
"structural_models": {
"alphafold": 648,
"bfvd": 0
},
"structures": 0,
"taxa": 1654
},
"entry_annotations": {},
"cross_references": {},
"is_llm": false,
"is_reviewed_llm": false,
"is_updated_llm": false,
"representative_structure": null
}
}
