Regulation and function of Zip4, the acrodermatitis enteropathica gene
نویسندگان
چکیده
منابع مشابه
Regulation and function of Zip4, the acrodermatitis enteropathica gene.
The SLC39A (solute carrier 39A) [ZIP (Zrt-Irt-like protein)] family consists of 14 members which are thought to control zinc uptake into the cytoplasm. Among these, ZIP4 is known to be particularly important for zinc homoeostasis. Mutations in this gene cause acrodermatitis enteropathica, a rare recessive-lethal human genetic disorder. In the present paper, our studies of the regulation and fun...
متن کاملAcrodermatitis enteropathica.
AIM The aim of the work was the presentation of one case with Acrodermatitis enteropathica. METHODS Acrodermatitis enteropathica is diagnosed based on the pedigree, typical clinical manifestations on the skin, laboratory results, small bowel biopsy, skin biopsy and kariotype. RESULTS The patient was a two years old male toddler, hospitalized due to skin changes, chronic diarrhoea and total ...
متن کاملAcrodermatitis Enteropathica
Acrodermatitis enteropathica is a rare genetic autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea. It is caused by mutations in the gene that encodes a membrane protein that binds zinc. We report a 14-month-old boy, admitted for erythematous, scaly and pustular lesions, initially located in the inguinal and perianal regions and on thighs, and very fe...
متن کاملThe mouse acrodermatitis enteropathica gene Slc39a4 (Zip4) is essential for early development and heterozygosity causes hypersensitivity to zinc deficiency.
The human Zip4 gene (Slc39a4) is mutated in the rare recessive genetic disorder of zinc metabolism acrodermatitis enteropathica, but the physiological functions of Zip4 are not well understood. Herein we demonstrate that homozygous Zip4-knockout mouse embryos die during early morphogenesis and heterozygous offspring are significantly underrepresented. At mid-gestation, an array of developmental...
متن کاملA Case of Acrodermatitis Enteropathica
Clinicians should be mindful of all paediatric skin diseases, which present in a similar manner during the first months of life. Acrodermatitis enteropathica (AE) is a rare, bullous disorder that has a significant impact on the child’s quality of life and is fatal if untreated. AE is either a recessively inherited or a transiently acquired disorder. The hereditary form is caused by a genetic mu...
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ژورنال
عنوان ژورنال: Biochemical Society Transactions
سال: 2008
ISSN: 0300-5127,1470-8752
DOI: 10.1042/bst0361242