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B001/B101
Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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MMACHC
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC.
| Gene Name: | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
| Synonyms: | MMACHC, RP11-291L19.3, DKFZP564I122 |
| Target Sequences: | AL080062 CAB45693.2 Q9Y4U1 |
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