Mitochondrial methylmalonic aciduria type B protein
The MMAB gene encodes an enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive homocystinuria-megaloblastic anemia cblB.
Genetests:
Related Diseases:
References:
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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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8. |
Wikipedia article
Wikipedia EN (MMAB)
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Update: Aug. 14, 2020