Monoaminoxidase B
Das MAOB-Gen kodiert ein mitochondriales Flavin-Enzym, welches für die oxydative Deaminierung von Aminen verantwortlich ist. Ein Zusammenhang mit der Histaminintoleranz wird auch diskutiert.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Chen ZY et al. (1992) Organization of the human monoamine oxidase genes and long-range physical mapping around them.
|
2. |
Binda C et al. (2002) Structure of human monoamine oxidase B, a drug target for the treatment of neurological disorders.
|
3. |
Wu RM et al. (2001) The COMT L allele modifies the association between MAOB polymorphism and PD in Taiwanese.
|
4. |
Checkoway H et al. (1998) A genetic polymorphism of MAO-B modifies the association of cigarette smoking and Parkinson's disease.
|
5. |
Grimsby J et al. (1997) Increased stress response and beta-phenylethylamine in MAOB-deficient mice.
|
6. |
Fowler JS et al. (1996) Inhibition of monoamine oxidase B in the brains of smokers.
|
7. |
Chen K et al. (1993) The deduced amino acid sequences of human platelet and frontal cortex monoamine oxidase B are identical.
|
8. |
Goldin LR et al. (1982) Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity.
|
9. |
None (1983) Biochemical genetics of catecholamines in humans.
|
10. |
Rice J et al. (1984) Platelet monoamine oxidase (MAO) activity: evidence for a single major locus.
|
11. |
Wyatt RJ et al. (1973) Reduced monoamine oxidase activity in platelets: a possible genetic marker for vulnerability to schizophrenia.
|
12. |
Bach AW et al. (1988) cDNA cloning of human liver monoamine oxidase A and B: molecular basis of differences in enzymatic properties.
|
13. |
Mellick GD et al. (1999) Variations in the monoamine oxidase B (MAOB) gene are associated with Parkinson's disease.
|
14. |
Gassó P et al. (2008) Association of A/G polymorphism in intron 13 of the monoamine oxidase B gene with schizophrenia in a Spanish population.
|
15. |
Costa-Mallen P et al. () Characterization of the in vitro transcriptional activity of polymorphic alleles of the human monoamine oxidase-B gene.
|
16. |
Kurth JH et al. (1993) Association of a monoamine oxidase B allele with Parkinson's disease.
|
17. |
Lenders JW et al. (1996) Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.
|
18. |
Denney RM et al. (1982) Human liver MAO-A and MAO-B separated by immunoaffinity chromatography with MAO-B-specific monoclonal antibody.
|
19. |
Kochersperger LM et al. (1986) Assignment of genes for human monoamine oxidases A and B to the X chromosome.
|
20. |
Levy ER et al. (1989) Localization of human monoamine oxidase-A gene to Xp11.23-11.4 by in situ hybridization: implications for Norrie disease.
|
21. |
Whibley A et al. (2010) Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.
|
22. |
Grimsby J et al. (1991) Human monoamine oxidase A and B genes exhibit identical exon-intron organization.
|
23. |
Chen K et al. (2004) A spontaneous point mutation produces monoamine oxidase A/B knock-out mice with greatly elevated monoamines and anxiety-like behavior.
|
24. |
Brunner HG et al. (1993) X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.
|
25. |
NCBI article
NCBI 4129
|
26. |
OMIM.ORG article
Omim 309860
|
Update: 14. August 2020