MTR
Homo sapiens
Gene Name: 5-methyltetrahydrofolate-homocysteine methyltransferase
Aliases: MS, cblG
Chromosome No: 1
Chromosome Band: 1q43
Genetic Category: Functional-Rare single gene variant
Aliases: MS, cblG
Chromosome No: 1
Chromosome Band: 1q43
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 10
Evidence score: 2
ASD Reports: 8
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
MTR mRNA levels in postmortem human cortex were found to be significantly lower in autistic subjects than in controls, especially at younger ages; however, protein levels were similar to controls (Muratore et al., 2013).
Molecular Function
This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Age-dependent decrease and alternative splicing of methionine synthase mRNA in human cerebral cortex and an accelerated decrease in autism.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
ID, epilepsy/seizures
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
ID, epilepsy
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN529R001a
missense_variant
c.3518C>T
p.Pro1173Leu
Familial
Both parents
Multiplex
GEN529R002a
missense_variant
c.155G>A
p.Arg52Gln
Familial
Both parents
Simplex
GEN529R009
frameshift_variant
c.2669_2670del
p.Val890GlyfsTer9
Familial
Paternal
Multiplex
Common
No Common Variants Available
