RGD Reference Report - X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. - Rat Genome Database

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X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.

Authors: Kere, J  Srivastava, AK  Montonen, O  Zonana, J  Thomas, N  Ferguson, B  Munoz, F  Morgan, D  Clarke, A  Baybayan, P  Chen, EY  Ezer, S  Saarialho-Kere, U  De la Chapelle, A  Schlessinger, D 
Citation: Kere J, etal., Nat Genet. 1996 Aug;13(4):409-16.
RGD ID: 1598881
Pubmed: (View Article at PubMed) PMID:8696334
DOI: Full-text: DOI:10.1038/ng0895-409

Ectodermal dysplasias comprise over 150 syndromes of unknown pathogenesis. X-linked anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat glands. We now describe the positional cloning of the gene mutated in EDA. Two exons, separated by a 200-kilobase intron, encode a predicted 135-residue transmembrane protein. The gene is disrupted in six patients with X;autosome translocations or submicroscopic deletions; nine patients had point mutations. The gene is expressed in keratinocytes, hair follicles, and sweat glands, and in other adult and fetal tissues. The predicted EDA protein may belong to a novel class with a role in epithelial-mesenchymal signalling.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Eda  (ectodysplasin-A)

Genes (Mus musculus)
Eda  (ectodysplasin-A)

Genes (Homo sapiens)
EDA  (ectodysplasin A)


Additional Information