MMACHC

MMACHC
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3SBY, 3SBZ, 3SC0, 3SOM
Identifiers
Aliases	MMACHC, cblC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria, metabolism of cobalamin associated C
External IDs	OMIM: 609831; MGI: 1914346; HomoloGene: 12082; GeneCards: MMACHC; OMA:MMACHC - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	45,513,382 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	116,565,603 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; muscle of thigh; ; stromal cell of endometrium; ; ventricular zone; ; mucosa of transverse colon; ; testicle; ; right auricle; ; left ventricle; ; prefrontal cortex; ; right adrenal gland;
	Top expressed in
	myocardium of ventricle; ; sternocleidomastoid muscle; ; soleus muscle; ; digastric muscle; ; temporal muscle; ; tibialis anterior muscle; ; triceps brachii muscle; ; vastus lateralis muscle; ; extraocular muscle; ; gastrocnemius muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	cobalamin binding; protein binding; FAD binding; demethylase activity; protein homodimerization activity; glutathione binding; cyanocobalamin reductase (cyanide-eliminating) activity; oxidoreductase activity;
Cellular component	cytosol; cytoplasm;
Biological process	demethylation; glutathione metabolic process; cobalamin biosynthetic process; cobalamin metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	25974
	67096
	ENSG00000132763
	ENSMUSG00000028690
	Q9Y4U1
	Q9CZD0
	NM_015506; NM_001330540
	NM_025962
	NP_001317469; NP_056321
	NP_080238
	Wikidata
View/Edit Human	View/Edit Mouse

Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene.^[5]

Function

The C-terminal region of the product of the MMACHC gene is similar to TonB, a bacterial protein involved in energy transduction for cobalamin uptake.^[5] The MMACHC gene product catalyzes the decyanation of cyanocobalamin as well as the dealkylation of alkylcobalamins including methylcobalamin and adenosylcobalamin.^[6] This function has also been attributed to cobalamin reductases.^[7] The MMACHC gene product and cobalamin reductases enable the interconversion of cyano- and alkylcobalamins.^[8]^[9]

Clinical significance

Mutations are associated with combined homocystinuria and methylmalonic acidemia.^[5]^[10]^[11]^[12]^[13]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000132763 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028690 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS (January 2006). "Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type". Nat. Genet. 38 (1): 93–100. doi:10.1038/ng1683. PMID 16311595. S2CID 7688576.
^ Luciana Hannibal, Jihoe Kim, Nicola E. Brasch, Sihe Wang, David S. Rosenblatt, Ruma Banerjee, and Donald W. Jacobsen (August 2009). "Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product". Mol Genet Metab. 2009 Aug; 97(4): 260–266.
^ Watanabe F, Nakano Y. "Purification and characterization of aquacobalamin reductases from mammals". Methods Enzymol. 1997;281;295-305.
^ Quadros EV, Jackson B, Hoffbrand AV, Linnell JC. "Interconversion of cobalamins in human lymphocytes in vitro and the influence of nitrous oxide on the synthesis of cobalamin coenzymes". Vitamin B12, Proceedings of the Third European Symposium on Vitamin B12 and Intrinsic Factor. 1979;1045-1054.
^ Quadros, EV. "Advances in the Understanding of Cobalamin Assimilation and Metabolism". Br J Haematol. 2010 Jan; 148(2): 195–204.
^ Ben-Omran TI, Wong H, Blaser S, Feigenbaum A (May 2007). "Late-onset cobalamin-C disorder: a challenging diagnosis". Am. J. Med. Genet. A. 143A (9): 979–84. doi:10.1002/ajmg.a.31671. PMID 17431913. S2CID 19791175.
^ Morel CF, Lerner-Ellis JP, Rosenblatt DS (August 2006). "Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations". Mol. Genet. Metab. 88 (4): 315–21. doi:10.1016/j.ymgme.2006.04.001. PMID 16714133.
^ Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA (October 2007). "Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance". Am. J. Med. Genet. A. 143A (20): 2430–4. doi:10.1002/ajmg.a.31932. PMID 17853453. S2CID 19372503.
^ Sloan, Jennifer L.; Carrillo, Nuria; Adams, David; Venditti, Charles P. (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Disorders of Intracellular Cobalamin Metabolism", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301503, retrieved 2024-02-24

External links

GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000132763 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028690 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid16311595-5] Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS (January 2006). "Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type". Nat. Genet. 38 (1): 93–100. doi:10.1038/ng1683. PMID 16311595. S2CID 7688576.

[6] Luciana Hannibal, Jihoe Kim, Nicola E. Brasch, Sihe Wang, David S. Rosenblatt, Ruma Banerjee, and Donald W. Jacobsen (August 2009). "Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product". Mol Genet Metab. 2009 Aug; 97(4): 260–266.

[7] Watanabe F, Nakano Y. "Purification and characterization of aquacobalamin reductases from mammals". Methods Enzymol. 1997;281;295-305.

[8] Quadros EV, Jackson B, Hoffbrand AV, Linnell JC. "Interconversion of cobalamins in human lymphocytes in vitro and the influence of nitrous oxide on the synthesis of cobalamin coenzymes". Vitamin B12, Proceedings of the Third European Symposium on Vitamin B12 and Intrinsic Factor. 1979;1045-1054.

[9] Quadros, EV. "Advances in the Understanding of Cobalamin Assimilation and Metabolism". Br J Haematol. 2010 Jan; 148(2): 195–204.

[pmid17431913-10] Ben-Omran TI, Wong H, Blaser S, Feigenbaum A (May 2007). "Late-onset cobalamin-C disorder: a challenging diagnosis". Am. J. Med. Genet. A. 143A (9): 979–84. doi:10.1002/ajmg.a.31671. PMID 17431913. S2CID 19791175.

[pmid16714133-11] Morel CF, Lerner-Ellis JP, Rosenblatt DS (August 2006). "Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations". Mol. Genet. Metab. 88 (4): 315–21. doi:10.1016/j.ymgme.2006.04.001. PMID 16714133.

[pmid17853453-12] Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA (October 2007). "Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance". Am. J. Med. Genet. A. 143A (20): 2430–4. doi:10.1002/ajmg.a.31932. PMID 17853453. S2CID 19372503.

[13] Sloan, Jennifer L.; Carrillo, Nuria; Adams, David; Venditti, Charles P. (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Disorders of Intracellular Cobalamin Metabolism", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301503, retrieved 2024-02-24

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[3]

[4]

[5]

[6]

[7]

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[12]

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Function

Clinical significance

References

Further reading

External links