Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | |
Human | SLC7A9 | 11136 | solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 | Aminoaciduria in some heterozygotes |
Human | SLC19A2 | 10560 | solute carrier family 19 (thiamine transporter), member 2 | |
Human | SUCLA2 | 8803 | succinate-CoA ligase, ADP-forming, beta subunit | |
Human | ALDH4A1 | 8659 | aldehyde dehydrogenase 4 family, member A1 | |
Human | PEX3 | 8504 | peroxisomal biogenesis factor 3 | |
Human | UQCRB | 7381 | ubiquinol-cytochrome c reductase binding protein | |
Human | TK2 | 7084 | thymidine kinase 2, mitochondrial | |
Human | SLC5A2 | 6524 | solute carrier family 5 (sodium/glucose cotransporter), member 2 | homozygous missense mutation in exon 8 of SLC5A2, resulting in a lysine to arginine substitution at position 321 underlies autosomal-recessive renal glucosuria and aminoaciduria |
Human | SLC3A1 | 6519 | solute carrier family 3 (amino acid transporter heavy chain), member 1 | Aminoaciduria in some heterozygotes |
Human | PEX5 | 5830 | peroxisomal biogenesis factor 5 | |
Human | PEX19 | 5824 | peroxisomal biogenesis factor 19 | |
Human | PRODH | 5625 | proline dehydrogenase (oxidase) 1 | |
Human | PEX14 | 5195 | peroxisomal biogenesis factor 14 | |
Human | PEX13 | 5194 | peroxisomal biogenesis factor 13 | |
Human | PEX10 | 5192 | peroxisomal biogenesis factor 10 | |
Human | PEX1 | 5189 | peroxisomal biogenesis factor 1 | |
Human | OCRL | 4952 | oculocerebrorenal syndrome of Lowe | |
Human | GALT | 2592 | galactose-1-phosphate uridylyltransferase | In untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria |
Human | GALE | 2582 | UDP-galactose-4-epimerase | |
Human | COX6B1 | 1340 | cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) | |
Human | CLCN5 | 1184 | chloride channel, voltage-sensitive 5 | Aminoaciduria (less common) |
Human | CASR | 846 | calcium-sensing receptor | |
Human | BCS1L | 617 | BC1 (ubiquinol-cytochrome c reductase) synthesis-like | |