ADK
Homo sapiens
Gene Name: adenosine kinase
Aliases: AK
Chromosome No: 10
Chromosome Band: 10q22.2
Genetic Category: Rare Single Gene variant
Aliases: AK
Chromosome No: 10
Chromosome Band: 10q22.2
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 7
Evidence score: null
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 7
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
A rare mutation in the ADK gene has been identified with ASD (Najmabadi et al., 2011).
Molecular Function
This gene encodes an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
ASD
Support
Expanding the genetic heterogeneity of intellectual disability.
DD, epilepsy/seizures
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN274R001a
missense_variant
A>G
p.His324Arg
Familial
Both parents
Multiplex
GEN274R002a
frameshift_variant
c.813dup
p.Asn272GlufsTer16
Familial
Both parents
Simplex
Common
No Common Variants Available
