MMAA Antibodies

Structure of MMAA

The molecular weight of the protein encoded by the MMAA gene is approximately 42 kDa. The molecular weight of this protein varies among different species, mainly due to variations in its nuclear localization signal and mitochondrial targeting sequence.

The MMAA protein is composed of 385 amino acids, and its three-dimensional structure includes a GTP-binding domain and a cobalamin binding region. The GTPase activity of this protein depends on its conserved G1-G5 motif, which together form the active center. The arginine residue at position 123 directly participates in the hydrolysis of GTP, while the glutamic acid at position 289 plays a key role in maintaining the stability of cobalamin.

Fig. 1 MMAA Protein Structure and the p.N225M Mutation.¹

Key structural properties of MMAA:

• Contains GTP-binding and cobalamin binding dual functional domains
• Highly conserved core motifs of GTPase activity
• Multiple helical structures form the vitamin B12 binding pocket
• Specific amino acid residues are involved in maintaining cobalamin stability

Functions of MMAA

The core function of the protein encoded by the MMAA gene is to participate in the metabolism and transport of vitamin B12 within cells. Its main physiological functions include:

This protein precisely regulates cobalamin metabolism through the GTP hydrolysis mechanism, and its functional defect will directly cause energy metabolism disorder and abnormal development.

Applications of MMAA and MMAA Antibody in Literature

1. Jafari, Mahboobeh, et al. "Identification of novel mutations in the MMAA and MUT genes among methylmalonic aciduria families." Iranian biomedical journal 27.6 (2023): 397. https://doi.org/10.61186/ibj.3782

This study conducted genetic analysis on 12 Iranian families with methylmalonic aciduria. Through homozygous localization and sequencing techniques, two novel mutations were identified in the MMAA and MUT genes. Some patients were not detected with known pathogenic mutations, suggesting the existence of other genetic mechanisms. This discovery expands the gene mutation spectrum of MMA.

2. Zhang, Yiyin, et al. "ESR1 regulates the obesity-and metabolism-differential gene MMAA to inhibit the occurrence and development of hepatocellular carcinoma." Frontiers in oncology 12 (2022): 899969. https://doi.org/10.3389/fonc.2022.899969

Research has found that the MMAA gene plays a tumor suppressor role in liver cancer. It inhibits tumor growth by damaging mitochondrial function and maintaining REDOX balance. Especially in obese female patients, the highly expressed estrogen receptor can upregulate MMAA, thereby exerting a protective effect, indicating that obesity may be a protective factor.

3. Lin, Yiming, et al. "Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings." BMC medical genetics 19.1 (2018): 114. https://doi.org/10.1186/s12881-018-0635-4

In this study, a novel homozygous missense mutation c.365T>C of the MMAA gene was discovered in a Chinese MMA family. This mutation may lead to unstable protein structure and is associated with the relatively mild clinical manifestations of CBLA-type methylmalonic acidemia in two fellow patients. The research confirmed the diagnosis through screening of the affected children and genetic verification of the family.

4. Keyfi, Fatemeh, et al. "Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia." Cellular & molecular biology letters 21.1 (2016): 4. https://doi.org/10.1186/s11658-016-0005-1

In this study, a homozygous deletion of c.674delA was found in exon 4 of the MMAA gene in a family with methylmalonic acidemia. This mutation causes premature termination of protein translation through frameshift, resulting in truncated protein, and has been confirmed as a pathogenic allele. Both of the sick children carried this mutation.

5. Wesół-Kucharska, Dorota, et al. "Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations." Molecular Genetics and Metabolism Reports 22 (2020): 100559. https://doi.org/10.1016/j.ymgmr.2019.100559

This study retrospectively analyzed 5 patients with CBLA-type methylmalonic aciduria caused by MMAA gene mutations. All patients were sensitive to hydroxycobalamin treatment and had good metabolic control. However, complications such as neurodevelopmental delay and chronic kidney disease still occurred during the long-term course of the disease, suggesting that early treatment failed to completely prevent long-term damage.

Creative Biolabs: MMAA Antibodies for Research

Creative Biolabs specializes in the production of high-quality MMAA antibodies for research and industrial applications. Our portfolio includes monoclonal antibodies tailored for ELISA, Flow Cytometry, Western blot, immunohistochemistry, and other diagnostic methodologies.

• Custom MMAA Antibody Development: Tailor-made solutions to meet specific research requirements.
• Bulk Production: Large-scale antibody manufacturing for industry partners.
• Technical Support: Expert consultation for protocol optimization and troubleshooting.
• Aliquoting Services: Conveniently sized aliquots for long-term storage and consistent experimental outcomes.

For more details on our MMAA antibodies, custom preparations, or technical support, contact us at email.