SLC25A24
Homo sapiens
Gene Name: Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
Aliases: RP11-356N1.3, APC1, SCAMC-1
Chromosome No: 1
Chromosome Band: 1p13.3
Genetic Category: Functional-Rare single gene variant
Aliases: RP11-356N1.3, APC1, SCAMC-1
Chromosome No: 1
Chromosome Band: 1p13.3
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Reduced expression in two out of three brain regions (anterior cingulate gyrus, motor cortex, and thalamus) following gene expression analysis of postmortem brain tissue of autism patients (Anitha et al., 2012).
Molecular Function
Calcium-dependent mitochondrial solute carrier. May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Brain region-specific altered expression and association of mitochondria-related genes in autism.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
