SLC25A14
Homo sapiens
Gene Name: Solute carrier family 25 (mitochondrial carrier, brain), member 14
Aliases: RP1-20I3.5, BMCP1, UCP5
Chromosome No: X
Chromosome Band: Xq26.1
Genetic Category: Functional-Rare single gene variant
Aliases: RP1-20I3.5, BMCP1, UCP5
Chromosome No: X
Chromosome Band: Xq26.1
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 9
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 9
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
Participates in the mitochondrial proton leak measured in brain 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
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, DD
