Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.
Nat Genet
; 6(4): 420-5, 1994 Apr.
Article
en En
| MEDLINE
| ID: mdl-8054986
ABSTRACT
Cystinuria is a classic heritable aminoaciduria that involves the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine. Six missense mutations in the human rBAT gene, which is involved in high-affinity transport of cystine and dibasic amino acids in kidney and intestine, segregate with cystinuria. These mutations account for 30% of the cystinuria chromosomes studied. Homozygosity for the most common mutation (M467T) was detected in three cystinuric siblings. Mutation M467T nearly abolished the amino acid transport activity induced by rBAT in Xenopus oocytes. These results establish rBAT as a cystinuria gene.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 2
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Glicoproteínas de Membrana
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Proteínas Portadoras
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Cistina
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Cistinuria
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Sistemas de Transporte de Aminoácidos Básicos
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Genes Recesivos
Límite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
1994
Tipo del documento:
Article
País de afiliación:
España