| 1 | ACAD9, ECSIT, NDUFAF1, TIMMDC1, TMEM126B, TMEM126BD |
| Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. | |
| Sánchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rötig A. | |
| Am J Hum Genet 99(1):208-16. doi: 10.1016/j.ajhg.2016.05.022. Epub 2016 Jun 30. 2016 | |
| 2 | ACAD9, ECSIT, NDUFAF1, TIMMDC1, TMEM126B |
| TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. | |
| Guarani V, Paulo J, Zhai B, Huttlin EL, Gygi SP, Harper JW. | |
| Mol Cell Biol 34(5):847-61. doi: 10.1128/MCB.01551-13. Epub 2013 Dec 16. 2014 | |
| 3 | NDUFAF1 |
| Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans. | |
| van den Ecker D, van den Brand MA, Ariaans G, Hoffmann M, Bossinger O, Mayatepek E, Nijtmans LG, Distelmaier F. | |
| Mitochondrion 12(3):399-405. doi: 10.1016/j.mito.2012.01.003. Epub 2012 Feb 22. 2012 | |
| 4 | CIA30D, NDUFAF1 |
| Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. | |
| Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S. | |
| J Med Genet 48(10):691-7. doi: 10.1136/jmedgenet-2011-100340. 2011 | |
| 5 | CIA30D,NDUFAF1 |
| Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. | |
| Dunning CJ, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, Fletcher JM, Kirby DM, Thorburn DR, Ryan MT. | |
| EMBO J 26(13):3227-37. Epub 2007 Jun 7. 2007 | |
| 6 | ECSIT, NDUFAF1 |
| Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. | |
| Vogel RO, Janssen RJ, van den Brand MA, Dieteren CE, Verkaart S, Koopman WJ, Willems PH, Pluk W, van den Heuvel LP, Smeitink JA, Nijtmans LG. | |
| Genes Dev 21(5):615-24. 2007 | |
| 7 | NDUFAF1 |
| Human mitochondrial complex I assembly is mediated by NDUFAF1. | |
| Vogel RO, Janssen RJ, Ugalde C, Grovenstein M, Huijbens RJ, Visch HJ, van den Heuvel LP, Willems PH, Zeviani M, Smeitink JA, Nijtmans LG. | |
| FEBS J 272(20):5317-26. 2005 | |
| 8 | NDUFAF1 |
| CIA30 complex I assembly factor: a candidate for human complex I deficiency? | |
| Janssen R, Smeitink J, Smeets R, van Den Heuvel L. | |
| Hum Genet 110(3):264-70. Epub 2002 Feb 01. 2002 | |
| 9 | ADIPOR1, AIG1, AMDHD2, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1A, APH1B, APIP, APOLD1, ARS2, ASCC1, ATXN10, BOLA1, C10orf10, C14orf166, C19orf56, C20orf109, C20orf4, C2orf14, C2orf16, C6orf60, C6orf62, CALCOCO1, CAMKK1, CCDC113, CCDC53, CCDC9, CCNB2, CD99L2, CDK5RAP1, CDK5RAP1, CGI-96, CHMP5, CHPF, CIAO2B, CLIC4, CLPB, COPZ1, COQ4, COQ6, CRELD1, CUTC, CYBRD1, DDX47, DERA, DHRS7, DHRS7B, DHRS7B, DPH5, DTNB, DYNC1LI2, EEF1AKNMT, ELOVL1, EMC9, ERGIC3, ESPN, EXOSC1, EXOSC3, FAHD2A, FAM108B1, FAM18B, FAM32A, FAM82B, FCF1, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GET4, GLOD4, GLRX2, GOLT1B, GOLT1B, GPR89A, GPS2, GRIPAP1, HDDC2, HDGFRP3, HIGD1A, IER3IP1, IFT52, ISOC1, KIF18A, KIF20B, KIRREL2, KL3, KLC2, LACTB2, LHX6, LMAN2L, LUC7L2, MAF1, MAGMAS, MECR, MED23, MED31, MEMO, METTL9, MIS12, MOABHD5, MOB4, MPC1, MRPL11, MRPL2, MRPL4, MRPL48, MRPS15, MRPS16, MRPS16P2, MRPS18C, MRPS23, MRPS33, MTCH1, MTERF3, MTO1, MYCBPAP, NCALD, NCIE2, NDUFAF1, NELF, NELFB, NFU1, NMD3, NOSIP, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, OTUD6B, PARVB, PCBD2, PHF20L1, PIGT, PMFBP1, PNAS-4, PRPF31, PRSS23, PTRH2, QRSL1, RBMX2, RGMA, RGMB, RNF103-CHMP3, RNF123, RNF146, RRNAD1, RRP15, RWDD1, RWDD3, SAMHD1, SAMM50, SCCPDH, SECISBP2, SEMA4F, SERBP1, SERBP1, SERP1, SH3BP5L, SIDT2, SLC25A24, SLC25A39, SLC35C2, SLC37A3, SLC41A2, SLC6A16, SLMO2, SMC6, SPEF1, SQRDL, STARD10, STMN2, SYF2, TARDBP, TBC1D3, TBL2, TFB1M, TFIP11, THAP4, THAP4, TIGD6, TIMMDC1, TMED5, TMED7, TMEM47, TPPP3, TRAF7, TRAPPC12, TRAPPC4, TRMT6, TRNT1, TSC22D3, TSPAN14, TWF2, UBE1DC1, UBE2J1, UCHL5, UNC50, USP39, UTP11L, VPS36, WDR37, WDR50, WDR91, WSB1, YARS2, YIPF3, YPEL5, ZC2HC1A, ZC3H13, ZDHHC9, ZMYND12, ZMYND15, ZRANB3 |
| Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. | |
| Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W. | |
| Genome Res 10(5):703-13. 2000 | |