Ectodysplasin A (EDA)

ED-A; ED1; ED1-A1; ED1-A2; EDA1; EDA2; HED; XHED; XLHED; Ectodermal Dysplasia 1,Anhidrotic; Ectodermal dysplasia protein

SPN	U396
HGNC	3157
MGI	1195272
PubMed	19623212
RGD	1563178
UniProt	Q92838
Wiki	EDA

Ectodysplasin-A is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene.

Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord.

Reference

"X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein."
Nat. Genet. 13:409-416(1996) [PubMed] [Europe PMC] [Abstract]

"Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations."
Am. J. Hum. Genet. 63:380-389(1998) [PubMed] [Europe PMC] [Abstract]

"The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats."
Hum. Mol. Genet. 7:1661-1669(1998) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Expression of a novel transcript isoform of the EDA gene in human umbilical cord."
Eur. J. Hum. Genet. Suppl. 7:104-104(1999)

"Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors."
Science 290:523-527(2000) [PubMed] [Europe PMC] [Abstract]

"Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein."
Hum. Mol. Genet. 10:953-962(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia."
Proc. Natl. Acad. Sci. U.S.A. 98:7218-7223(2001) [PubMed] [Europe PMC] [Abstract]

"The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity."
Structure 11:1513-1520(2003) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia."
Clin. Genet. 53:205-209(1998) [PubMed] [Europe PMC] [Abstract]

"Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications."
J. Med. Genet. 35:112-115(1998) [PubMed] [Europe PMC] [Abstract]

"X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)."
J. Invest. Dermatol. 113:285-286(1999) [PubMed] [Europe PMC] [Abstract]

"A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia."
J. Invest. Dermatol. 115:329-330(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia."
Am. J. Med. Genet. 100:191-197(2001) [PubMed] [Europe PMC] [Abstract]

"Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia."
Eur. J. Hum. Genet. 9:355-363(2001) [PubMed] [Europe PMC] [Abstract]

"The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia."
Hum. Mutat. 17:349-349(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A."
J. Biol. Chem. 276:18819-18827(2001) [PubMed] [Europe PMC] [Abstract]

"Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia."
Arch. Dermatol. 138:1256-1258(2002) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules."
Br. J. Dermatol. 149:443-445(2003) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia."
J. Hum. Genet. 51:498-502(2006) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia."
Am. J. Med. Genet. A 143:390-394(2007) [PubMed] [Europe PMC] [Abstract]

"Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia."
Eur. J. Hum. Genet. 16:673-679(2008) [PubMed] [Europe PMC] [Abstract]

"Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis."
Eur. J. Med. Genet. 51:536-546(2008) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia."
Clin. Genet. 75:582-584(2009) [PubMed] [Europe PMC] [Abstract]

"EDA gene mutations underlie non-syndromic oligodontia."
J. Dent. Res. 88:126-131(2009) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia."
Pediatr. Res. 65:453-457(2009) [PubMed] [Europe PMC] [Abstract]

"Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems."
Genet. Mol. Res. 9:941-948(2010) [PubMed] [Europe PMC] [Abstract]

"Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases."
Hum. Mutat. 32:70-72(2011) [PubMed] [Europe PMC] [Abstract]

"Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family."
Gene 491:246-250(2012) [PubMed] [Europe PMC] [Abstract]

"A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus."
Minerva Pediatr. 64:59-64(2012) [PubMed] [Europe PMC] [Abstract]

"Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia."
J. Dent. Res. 92:500-506(2013) [PubMed] [Europe PMC] [Abstract]

"Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA)."
J. Dent. Res. 92:507-511(2013) [PubMed] [Europe PMC] [Abstract]

"Oligodontia and curly hair occur with ectodysplasin-a mutations."
J. Dent. Res. 93:371-375(2014) [PubMed] [Europe PMC] [Abstract]