Mitochondriales Methylmalonazidurie Typ B Protein
Das MMAB-Gen kodiert ein Enzym, welches im Cobalamin-Stoffwechsel beteiligt ist. Mutationen verursachen die autosomal rezessive Homozysteinurie cblB
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Dobson CM et al. (2002) Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.
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2. |
Jorge-Finnigan A et al. (2010) Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
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3. |
Brasil S et al. (2015) Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.
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4. |
Johnson CL et al. (2001) Functional genomic, biochemical, and genetic characterization of the Salmonella pduO gene, an ATP:cob(I)alamin adenosyltransferase gene.
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5. |
NCBI article
NCBI 326625
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6. |
OMIM.ORG article
Omim 607568
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7. |
Orphanet article
Orphanet ID 123296
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Update: 14. August 2020