Q9UNE0.1
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
Tumor necrosis factor receptor superfamily member EDAR
NCBI Official Synonym Full Names
ectodysplasin A receptor
NCBI Official Synonym Symbols
DL; ED3; ED5; ED1R; EDA3; HRM1; EDA1R; ECTD10A; ECTD10B; EDA-A1R [Similar Products]
NCBI Protein Information
tumor necrosis factor receptor superfamily member EDAR
UniProt Protein Name
Tumor necrosis factor receptor superfamily member EDAR
UniProt Synonym Protein Names
Anhidrotic ectodysplasin receptor 1; Downless homolog; EDA-A1 receptor; Ectodermal dysplasia receptor; Ectodysplasin-A receptor
UniProt Synonym Gene Names
UniProt Entry Name
EDAR_HUMAN
NCBI Summary for EDAR
This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for 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. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
UniProt Comments for EDAR
EDAR: Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death. Defects in EDAR are a cause of ectodermal dysplasia anhidrotic (EDA); 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. Defects in EDAR are the cause of ectodermal dysplasia type 3 (ED3); also known as ectodermal dysplasia hypohidrotic autosomal dominant or EDA3. ED3 is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.
Protein type: Receptor, misc.; Membrane protein, integral
Chromosomal Location of Human Ortholog: 2q13
Cellular Component: apical part of cell; plasma membrane; integral to membrane
Molecular Function: protein binding; transmembrane receptor activity; receptor activity
Biological Process: epidermis development; pigmentation; hair follicle development; apoptosis; positive regulation of NF-kappaB import into nucleus; cell differentiation; signal transduction; odontogenesis of dentine-containing teeth
Disease: Hair Morphology 1; Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant; Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive
Research Articles on EDAR
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Products associated with EDAR elisa kit
Pathways associated with EDAR elisa kit
Diseases associated with EDAR elisa kit
Organs/Tissues associated with EDAR elisa kit
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