AGMO
Homo sapiens
Gene Name: alkylglycerol monooxygenase
Aliases: tcag7.1136, TMEM195
Chromosome No: 7
Chromosome Band: 7p21.2
Genetic Category: Genetic Association-Rare single gene variant
Aliases: tcag7.1136, TMEM195
Chromosome No: 7
Chromosome Band: 7p21.2
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 0
Annotated variants: 14
Associated CNVs: 10
Evidence score: 2
ASD Reports: 8
Recent Reports: 0
Annotated variants: 14
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare CNV in the AGMO (TMEM195) gene has been identified with autism in AGRE, NIMH and additional cohorts (Sebat et al., 2007).
Molecular Function
The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN253R007
frameshift_variant
c.842dup
p.Trp282MetfsTer13
Familial
Paternal
Multiplex
GEN253R010
frameshift_variant
c.1314_1315insA
p.Leu439ThrfsTer10
Familial
Maternal
Multiplex
GEN253R012
frameshift_variant
c.1016_1017del
p.Thr339SerfsTer12
Familial
Maternal
Multiplex
GEN253R013
frameshift_variant
c.920_921insG
p.Lys308Ter
Familial
Maternal
Multiplex
Common
No Common Variants Available
