Adenin Phosphoribosyltransferase
Das APRT-Gen kodiert ein wichtiges Gen des Nukleinsäureabbaus. Mutationen dieses Gens sind für die autosomal rezessive Erkrankung der 2,8-Dihydroxyadenin Urolithiasis verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Mimori A et al. (1991) A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
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2. |
Kamatani N et al. (1989) Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
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3. |
Hidaka Y et al. (1987) Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.
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4. |
Menardi C et al. (1997) Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.
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5. |
OMIM.ORG article
Omim 102600
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6. |
NCBI article
NCBI 353
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7. |
Orphanet article
Orphanet ID 121400
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8. |
Wikipedia Artikel
Wikipedia DE (Adenin-Phosphoribosyltransferase)
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Update: 14. August 2020