From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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, et al. (December 2002).
"Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria" . Human Molecular Genetics . 11 (26): 3361–3369.
doi :
10.1093/hmg/11.26.3361 .
PMID
12471062 .
^ Leal NA, Park SD, Kima PE, Bobik TA (March 2003).
"Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant" . The Journal of Biological Chemistry . 278 (11): 9227–9234.
doi :
10.1074/jbc.M212739200 .
PMID
12514191 .
^
a
b
c
"Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type" .
External links
Further reading
Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, et al. (February 2008).
"Newly identified loci that influence lipid concentrations and risk of coronary artery disease" . Nature Genetics . 40 (2): 161–169.
doi :
10.1038/ng.76 .
PMC
5206900 .
PMID
18193043 .
Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, et al. (August 2007).
"Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)" . Pediatric Research . 62 (2): 225–230.
doi :
10.1203/PDR.0b013e3180a0325f .
PMID
17597648 .
Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, et al. (June 2007). "Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia". Biochemical Genetics . 45 (5–6): 421–430.
CiteSeerX
10.1.1.509.517 .
doi :
10.1007/s10528-007-9085-y .
PMID
17410422 .
S2CID
20799098 .
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006).
"Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Research . 16 (1): 55–65.
doi :
10.1101/gr.4039406 .
PMC
1356129 .
PMID
16344560 .
Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B (April 2005). "Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants". Molecular Genetics and Metabolism . 84 (4): 317–325.
doi :
10.1016/j.ymgme.2004.11.011 .
PMID
15781192 .
Leal NA, Olteanu H, Banerjee R, Bobik TA (November 2004).
"Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase" . The Journal of Biological Chemistry . 279 (46): 47536–47542.
doi :
10.1074/jbc.M405449200 .
PMID
15347655 .
Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, Bieber FR, Morton CC (September 1994). "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 .
Fat soluble vitamins
Water soluble vitamins
Nonvitamin cofactors