rs375406763

This variant is located in the SLC25A5 gene.

ClinVar annotation

Benign
2 submitters

SLC25A5-related disorder; Clear cell carcinoma of kidney

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About SLC25A5

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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