AMPD1
Homo sapiens
Gene Name: Adenosine monophosphate deaminase 1
Aliases: RP5-1000E10.1, MAD, MADA, MMDD
Chromosome No: 1
Chromosome Band: 1p13.2
Genetic Category: Genetic association-Rare single gene variant
Aliases: RP5-1000E10.1, MAD, MADA, MMDD
Chromosome No: 1
Chromosome Band: 1p13.2
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 13
Associated CNVs: 4
Evidence score: 3
ASD Reports: 5
Recent Reports: 1
Annotated variants: 13
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Variants in and adjacent to the AMPD1 gene were found to associate with ASD in a genome-wide assocation study using two Chinese cohorts for gene discovery and three European datasets for replication analysis (Xia et al., 2013). Case-specific functional variants in the AMPD1 gene have also been identified in ASD cases of Han Chinese descent (Zhang et al., 2014).
Molecular Function
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in humans.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
AMPD1 functional variants associated with autism in Han Chinese population.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN631C001
intron_variant
rs761755
c.867-105C>T;c.855-105C>T
Minor allele, G
Discovery: two Chinese ASD cohorts composed of family-based and case-control samples (n=2150); Replicaton: three family-based ASD cohorts of European descent from AGRE, SFARI, and AGP
Discovery & Replication
GEN631C002
2KB_upstream_variant
rs926938
c.-1625T>C
Minor allele, A
Discovery: two Chinese ASD cohorts composed of family-based and case-control samples (n=2150); Replicaton: three family-based ASD cohorts of European descent from AGRE, SFARI, and AGP
Discovery & Replication
