MMADHC

MMADHC is a gene that provides instructions for making a protein that is essential for the normal function of the body. This protein is involved in the processing of certain vitamins, specifically vitamin B12 (also known as cobalamin). The MMADHC protein helps convert these vitamins into their active forms, which are necessary for the body to function properly.

The MMADHC gene is located on the short (p) arm of chromosome 2 at position 23.3. More precisely, the MMADHC gene is located from base pair 26,806,109 to base pair 26,812,758 on chromosome 2.

Mutations in the MMADHC gene can lead to disorders such as cblD type of methylmalonic aciduria and homocystinuria, which are inherited metabolic disorders. These disorders are characterized by the body's inability to properly process certain proteins and lipids (fats).

Function[edit | edit source]

The MMADHC protein is involved in the last steps of the conversion of vitamin B12 into its two active forms: adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). These two forms of vitamin B12 are coenzymes that are necessary for the function of two different enzymes: methylmalonyl CoA mutase and methionine synthase, respectively.

Clinical significance[edit | edit source]

Mutations in the MMADHC gene can lead to a deficiency in the MMADHC protein, which in turn can lead to a deficiency in the active forms of vitamin B12. This can cause a variety of symptoms, including developmental delay, failure to thrive, anemia, and other serious health problems.