MMAB
Mitohondrijska kob(I)rinskokiselinska a,c-diamid-adenoziltransferaza je enzim koji je kod ljudi kodiran genom MMAB.[5][6][7]
Aminokiselinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 250 aminokiselina, a molekulska težina 27.388 Da.[8].
10 | 20 | 30 | 40 | 50 | ||||
---|---|---|---|---|---|---|---|---|
MAVCGLGSRL | GLGSRLGLRG | CFGAARLLYP | RFQSRGPQGV | EDGDRPQPSS | ||||
KTPRIPKIYT | KTGDKGFSST | FTGERRPKDD | QVFEAVGTTD | ELSSAIGFAL | ||||
ELVTEKGHTF | AEELQKIQCT | LQDVGSALAT | PCSSAREAHL | KYTTFKAGPI | ||||
LELEQWIDKY | TSQLPPLTAF | ILPSGGKISS | ALHFCRAVCR | RAERRVVPLV | ||||
QMGETDANVA | KFLNRLSDYL | FTLARYAAMK | EGNQEKIYMK | NDPSAESEGL | ||||
- Simboli
C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin
Funkcija
[uredi | uredi izvor]Ovaj gen kodira enzim kob(I)jirinatna kiselina a, c-diamid-adenoziltransferaza, koji katalizira posljednji korak u pretvaranju vitamina B12 u adenozilkobalamin (AdoCbl), vitamina B12 koji sadrži koenzim za metilmalonil-CoA mutazu.[7]
Klinički značaj
[uredi | uredi izvor]Mutacije u genu su uzrok metilmalonske acidurije zbog zavisnog vezanja vitamina B12 sa komplementarnom grupom cblB.[7]
Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000139428 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029575 - Ensembl, maj 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.
- ^ a b c "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type".
- ^ "UniProt, Q96EY8". Pristupljeno 12. 8. 2021.
Dopunska literatura
[uredi | uredi izvor]- 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. CiteSeerX 10.1.1.509.517. doi:10.1007/s10528-007-9085-y. PMID 17410422. S2CID 20799098.
- 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.
- 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.
Vanjski linkovi
[uredi | uredi izvor]- GeneReviews/NCBI/NIH/UW entry on Methylmalonic Acidemia
- PDBe-KB provides an overview of all the structure information available in the PDB for Human Corrinoid adenosyltransferase (MMAB)