The MMAB gene provides instructions for making an enzyme that is involved in the formation of a compound called adenosylcobalamin (AdoCbl). Learn about this gene and related health conditions.

PDBe-KB provides an overview of all the structure information available in the PDB for Human Corrinoid adenosyltransferase (MMAB)

2024年12月25日 · MMAB (Metabolism Of Cobalamin Associated B) is a Protein Coding gene. Diseases associated with MMAB include Methylmalonic Aciduria, Cblb Type and Methylmalonic Acidemia. Among its related pathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Metabolism of water-soluble vitamins and cofactors.

Methylmalonic acidemia (cobalamin disorders) is caused by changes in either the MMAA or MMAB gene. The MMAA and MMAB genes give your body instructions for proteins that are needed to process vitamin B-12, which helps the enzyme methylmalonyl CoA mutase (mut) to …

2021年11月8日 · We demonstrate that hepatic levels of MMAB are modulated by dietary and cellular cholesterol levels through SREBP2, the master transcriptional regulator of cholesterol homeostasis.

Methylmalonic acidemia (MMA) is a lethal, severe heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with poor prognosis.

At least 25 mutations in the MMAB gene have been found to cause methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, and long-term health problems. Some of these genetic changes delete or duplicate a small amount of genetic material in the MMAB gene.

2023年10月24日 · The MMAB gene encodes cob(I)alamin adenosyltransferase (EC 2.5.1.17), which catalyzes the final step in the synthesis of the cofactor adenosylcobalamin (AdoCbl).

2016年11月1日 · Go to Variation Viewer for MMAB variants Summary This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase.

2021年11月8日 · We demonstrate that hepatic levels of MMAB are modulated by dietary and cellular cholesterol levels through SREBP2, the master transcriptional regulator of cholesterol homeostasis.