| 1 | AAOA, DHTKD1 |
| DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria. | |
| Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kölker S. | |
| Am J Hum Genet 91(6):1082-7. doi: 10.1016/j.ajhg.2012.10.006. Epub 2012 Nov 8. 2012 | |
| 2 | CMT2Q, DHTKD1 |
| A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree. | |
| Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG. | |
| Am J Hum Genet 91(6):1088-94. doi: 10.1016/j.ajhg.2012.09.018. Epub 2012 Nov 8. 2012 | |
| 3 | DHTKD1, OGDHL |
| Structure-function relationships in the 2-oxo acid dehydrogenase family: substrate-specific signatures and functional predictions for the 2-oxoglutarate dehydrogenase-like proteins. | |
| Bunik VI, Degtyarev D. | |
| Proteins 71(2):874-90. 2008 | |
| 4 | ANKRD36B, BCOR, BEND3, CACHD1, CHD8, CNNM4, DDX55, DHTKD1, EIF2C4, EPB41L5, EPG5, FAM160B1, GBA2, GPAM, GPR107, HERC4, KIAA1586, KIAA1609, KIF16B, MAGEE1, MAGI3, MED12L, MED12L, METTL14, MIER1, MOV10, NCKAP5L, NCOA5, PCDHB16, RNF213, SEMA4G, SFMBT2, SMURF1, TNRC6C, TRPM3, USP37, VAT1L, WDFY4, WDR19, WNK3, ZBTB26, ZNF532, ZPR1 ZNF319, ZSWIM5, ZSWIM6 |
| Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. | |
| Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O. | |
| DNA Res 7(4):273-81. 2000 | |