SLC25A16 Chromosome 10
Solute carrier family 25 member 16
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What This Gene Does
This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
10q21.3
Ensembl
ENSG00000122912
Associated Conditions (3)
Inherited isolated nail anomaly
autosomal recessive isolated fingernail dysplasia
Cerebral visual impairment and intellectual disability
Key Variants
RS771745123
Conflicting classifications of pathogenicity
Inherited isolated nail anomaly, autosomal recessive isolated fingernail dysplasia, Inherited isolated nail anomaly
Health Risk
RS869312864
Likely pathogenic
Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS771745123 | Health Risk | Conflicting classifications of pathogenicity | Inherited isolated nail anomaly, autosomal recessive isolated fingernail dysplasia, Inherited isolated nail anomaly |
| RS869312864 | Health Risk | Likely pathogenic | Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability |