KMO
Homo sapiens
Gene Name: kynurenine 3-monooxygenase
Aliases: RP1-317G22.1, dJ317G22.1
Chromosome No: 1
Chromosome Band: 1q43
Genetic Category: Functional-Rare single gene variant
Aliases: RP1-317G22.1, dJ317G22.1
Chromosome No: 1
Chromosome Band: 1q43
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 10
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A nonsynonymous coding region polymorphism in the KMO gene was identified in the genetic background of the BTBR T+tf/J (BTBR) mouse, an inbred mouse strain that incorporates multiple behavioral phenotypes relevant to all three diagnostic symptoms of autism (McFarlane et al., 2008).
Molecular Function
This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN571R001
frameshift_variant
c.583_601del
p.Met195LeufsTer22
De novo
Multiplex
GEN571R002
splice_site_variant
c.222+3_222+5dup
Familial
Paternal
Multiplex
Common
No Common Variants Available
