SLC25A21 Chromosome 14
Solute carrier family 25 member 21
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What This Gene Does
SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Solute carrier family 25"
Locus Type
gene with protein product
Location
14q13.3
Ensembl
ENSG00000183032
Associated Conditions (1)
Mitochondrial DNA depletion syndrome 18
Key Variants
RS200963388
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 18, Mitochondrial DNA depletion syndrome 18
Health Risk
RS532455995
Conflicting classifications of pathogenicity
Health Risk
RS1389068504
Pathogenic
Mitochondrial DNA depletion syndrome 18, Mitochondrial DNA depletion syndrome 18
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200963388 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial DNA depletion syndrome 18, Mitochondrial DNA depletion syndrome 18 |
| RS532455995 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1389068504 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 18, Mitochondrial DNA depletion syndrome 18 |