MAOB
Homo sapiens
Gene Name: monoamine oxidase B
Aliases: RP1-201D17__B.1
Chromosome No: X
Chromosome Band: Xp11.3
Genetic Category: Multigenic CNV-Functional-Genetic association-Rare single gene variant-Syndromic
Aliases: RP1-201D17__B.1
Chromosome No: X
Chromosome Band: Xp11.3
Genetic Category: Multigenic CNV-Functional-Genetic association-Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 11
Evidence score: 0
ASD Reports: 6
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 11
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Deletions affecting the MAOB gene (in addition to the MAOA gene) have been identified in affected male siblings from multiplex families presenting with ASD or autistic features, in addition to severe developmental delay and hypotonia (Saito et al., 2013; Whibley et al., 2010).
Molecular Function
The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus.
ASD
DD
Positive Association
Genetic variants of MAOB affect serotonin level and specific behavioral attributes to increase autism spectrum disorder (ASD) susceptibility in males.
ASD
Support
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
ASD, DD, ID
Support
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
ASD
Support
Monoamine oxidase A and A/B knockout mice display autistic-like features.
Support
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.
DD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN524R003
missense_variant
c.392G>T
p.Ser131Ile
Familial
Maternal
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN524C001
intron_variant
rs2283727
c.1235+1478C>A;c.1250+1478C>A;c.1187+1478C>A;c.1090-4279C>A;c.1097+1478C>A
203 ASD cases (170 males, 33 females) and 236 controls (125 males, 111 females) from West Bengal
Discovery
GEN524C002
intron_variant
rs2283728
c.1235+1294C>T;c.1250+1294C>T;c.1187+1294C>T;c.1090-4463C>T;c.1097+1294C>T
203 ASD cases (170 males, 33 females) and 236 controls (125 males, 111 females) from West Bengal
Discovery
GEN524C003
synonymous_variant
rs6324
c.1461C>T;c.1476C>T;c.1413C>T;c.*79C>T;c.1323C>T
203 ASD cases (170 males, 33 females) from West Bengal
Discovery
