MMAB

MMAB
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2IDX
Identifiers
Aliases	MMAB, ATR, CFAP23, cblB, cob, methylmalonic aciduria (cobalamin deficiency) cblB type, metabolism of cobalamin associated B
External IDs	OMIM: 607568 MGI: 1924947 HomoloGene: 12680 GeneCards: MMAB
Gene location (Human)
Chr.	Chromosome 12 (human)
End	109,573,580 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	114,582,121 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; left adrenal gland; ; pancreatic ductal cell; ; left lobe of thyroid gland; ; left ventricle; ; right lobe of thyroid gland; ; body of pancreas; ; endothelial cell; ; anterior pituitary; ; kidney;
	Top expressed in
	interventricular septum; ; saccule; ; ascending aorta; ; myocardium of ventricle; ; neural tube; ; skeletal muscle tissue; ; yolk sac; ; right ventricle; ; brown adipose tissue; ; triceps brachii muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; nucleotide binding; cob(I)yrinic acid a,c-diamide adenosyltransferase activity; ATP binding; protein binding; cobalamin binding;
Cellular component	mitochondrial matrix; mitochondrion;
Biological process	cobalamin metabolic process; cobalamin biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	326625
	77697
	ENSG00000139428
	ENSMUSG00000029575
	Q96EY8
	Q9D273
	NM_052845
	NM_029956; NM_001347398
	NP_443077
	NP_001334327; NP_084232
	Wikidata
View/Edit Human	View/Edit Mouse

Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial is an enzyme that in humans is encoded by the MMAB gene.^[5]^[6]^[7]

Function

This gene encodes an enzyme (cob(I)yrinic acid a,c-diamide adenosyltransferase) that catalyzes the final step in the conversion of vitamin B₁₂ into adenosylcobalamin (AdoCbl), a vitamin B₁₂-containing coenzyme for methylmalonyl-CoA mutase.^[7]

Clinical significance

Mutations in the gene are the cause of vitamin B₁₂-dependent methylmalonic aciduria linked to the cblB complementation group.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139428 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029575 – 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.
^ Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA (Dec 2002). "Identification of the gene responsible for the cblB complementation group of vitamin B₁₂-dependent methylmalonic aciduria". Hum Mol Genet. 11 (26): 3361–9. doi:10.1093/hmg/11.26.3361. PMID 12471062.
^ Leal NA, Park SD, Kima PE, Bobik TA (Mar 2003). "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant". J Biol Chem. 278 (11): 9227–34. doi:10.1074/jbc.M212739200. PMID 12514191.{{cite journal}}: CS1 maint: unflagged free DOI (link)
^ ^a ^b ^c "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type".

External links

GeneReviews/NCBI/NIH/UW entry on Methylmalonic Acidemia

Willer CJ, Sanna S, Jackson AU, et al. (2008). "Newly identified loci that influence lipid concentrations and risk of coronary artery disease". Nat. Genet. 40 (2): 161–9. doi:10.1038/ng.76. PMC 5206900. PMID 18193043.
Hörster F, Baumgartner MR, Viardot C, et al. (2007). "Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)". Pediatr. Res. 62 (2): 225–30. doi:10.1203/PDR.0b013e3180a0325f. PMID 17597648.
Keeratichamroen S, Cairns JR, Sawangareetrakul P, et al. (2007). "Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia". Biochem. Genet. 45 (5–6): 421–30. doi:10.1007/s10528-007-9085-y. PMID 17410422.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Martínez MA, Rincón A, Desviat LR, et al. (2005). "Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants". Mol. Genet. Metab. 84 (4): 317–25. doi:10.1016/j.ymgme.2004.11.011. PMID 15781192.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Leal NA, Olteanu H, Banerjee R, Bobik TA (2005). "Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase". J. Biol. Chem. 279 (46): 47536–42. doi:10.1074/jbc.M405449200. PMID 15347655.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, et al. (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139428 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029575 – 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.

[pmid12471062-5] Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA (Dec 2002). "Identification of the gene responsible for the cblB complementation group of vitamin B₁₂-dependent methylmalonic aciduria". Hum Mol Genet. 11 (26): 3361–9. doi:10.1093/hmg/11.26.3361. PMID 12471062.

[pmid12514191-6] Leal NA, Park SD, Kima PE, Bobik TA (Mar 2003). "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant". J Biol Chem. 278 (11): 9227–34. doi:10.1074/jbc.M212739200. PMID 12514191.{{cite journal}}: CS1 maint: unflagged free DOI (link)

[entrez-7] "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type".

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Function

Clinical significance

References

External links

Further reading