MMACHC
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Gene Basics:
- Symbol: MMACHC
- Function: MMACHC regulates mitochondrial iron transport and respiration.
- Location: It resides in the nucleus but influences mitochondrial function.
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Diseases Associated:
- Methylmalonic Aciduria and Homocystinuria, CblC Type: MMACHC mutations cause this disorder, leading to developmental delay, eye defects, neurological problems, and blood abnormalities.
- Disorders of Intracellular Cobalamin Metabolism: MMACHC plays a role in cobalamin (vitamin B12) processing, impacting overall health.
