NDUFA5
Homo sapiens
Gene Name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
Aliases: B13, CI-13KD-B, CI-13kB, DKFZp781K1356, FLJ12147, NUFM, UQOR13
Chromosome No: 7
Chromosome Band: 7q31.32
Genetic Category: Genetic Association-Rare single gene variant
Aliases: B13, CI-13KD-B, CI-13kB, DKFZp781K1356, FLJ12147, NUFM, UQOR13
Chromosome No: 7
Chromosome Band: 7q31.32
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 4
Evidence score: 0
ASD Reports: 4
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 4
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the NDUFA5 gene and autism in a Japanese population cohort (Marui et al., 2011).
Molecular Function
The encoded protein is the B13 subunit of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.
ASD
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Highly Cited
A human cDNA encoding the homologue of NADH: ubiquinone oxidoreductase subunit B13.
Recent Recommendation
Defining the human deubiquitinating enzyme interaction landscape.
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
GEN168C001
intron_variant
rs12666974
c.22-1334A>T;c.67-1334A>T;c.58-1334A>T;c.66+5484A>T;c.265-1334A>T;c.97-1334A>T
T/A
Japanese
Discovery
GEN168C002
intron_variant
rs3779262
c.139-127T>A;c.184-127T>A;c.175-127T>A;c.67-127T>A;c.382-127T>A;c.214-127T>A
T to A
Japanese
Discovery
