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MMADHC

metabolism of cobalamin associated D

gene with protein productOMIM: 6119353 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3
Methylcobalamin deficiency type cblDv1ORPHA:308380
→
Vitamin B12-responsive methylmalonic acidemia, type cblDv2ORPHA:308442
→
Methylmalonic acidemia with homocystinuria, type cblDORPHA:79283
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Данные: Orphadata (CC-BY-4.0)