Homo sapiens (Human). Mitochondrial protein C2orf69
Family : C2orf69_mit
Block : X
Position in NCBI Life Tree : Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N EMWGFRLLRSP PLLLLLPQLG IGNASSCSQA RTMNPGGSGG ARCSLSAEVR RRQCLQLSTV PGADPQRSNE LLLLAAAGEG LERQDLPGDP AKEEPQPPPQ HHVLYFPGDV QNYHEIMTRH PENYQWENWS LENVATILAH RFPNSYIWVI KCSRMHLHKF SCYDNFVKSN MFGAPEHNTD FGAFKHLYML LVNAFNLSQN SLSKKSLNVW NKDSIASNCR SSPSHTTNGC QGEKVRTCEK SDESAMSFYP PSLNDASFTL IGFSKGCVVL NQLLFELKEA KKDKNIDAFI KSIRTMYWLD GGHSGGSNTW VTYPEVLKEF AQTGIIVHTH VTPYQVRDPM RSWIGKEHKK FVQILGDLGM QVTSQIHFTK EAPSIENHFR VHEVF
Title : Identification and validation of oxidative stress-related diagnostic markers for recurrent pregnancy loss: insights from machine learning and molecular analysis - Hu_2024_Mol.Divers__ |
Author(s) : Hu H , Yu L , Cheng Y , Xiong Y , Qi D , Li B , Zhang X , Zheng F |
Ref : Mol Divers , : , 2024 |
Abstract : |
PubMedSearch : Hu_2024_Mol.Divers__ |
PubMedID: 39225907 |
Gene_locus related to this paper: human-cb069 |
Title : A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia - Werren_2023_Am.J.Med.Genet.A_191_2446 |
Author(s) : Werren EA , Srinivasan VM , Gowda VK , Pandey A , Vaish S , Kabbur AR , Nandeesh BN , Srivastava A |
Ref : American Journal of Medicine Genet A , 191 :2446 , 2023 |
Abstract : |
PubMedSearch : Werren_2023_Am.J.Med.Genet.A_191_2446 |
PubMedID: 37337918 |
Gene_locus related to this paper: human-cb069 |
Title : C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation - Lausberg_2021_J.Clin.Invest_131_e143078 |
Author(s) : Lausberg E , Giesselmann S , Dewulf JP , Wiame E , Holz A , Salvarinova R , van Karnebeek CD , Klemm P , Ohl K , Mull M , Braunschweig T , Weis J , Sommer CJ , Demuth S , Haase C , Stollbrink-Peschgens C , Debray FG , Libioulle C , Choukair D , Oommen PT , Borkhardt A , Surowy H , Wieczorek D , Wagner N , Meyer R , Eggermann T , Begemann M , van Schaftingen E , Hausler M , Tenbrock K , van den Heuvel L , Elbracht M , Kurth I , Kraft F |
Ref : J Clinical Investigation , 131 : , 2021 |
Abstract : |
PubMedSearch : Lausberg_2021_J.Clin.Invest_131_e143078 |
PubMedID: 33945503 |
Gene_locus related to this paper: human-cb069 |
Title : Initial characterization of the human central proteome - Burkard_2011_BMC.Syst.Biol_5_17 |
Author(s) : Burkard TR , Planyavsky M , Kaupe I , Breitwieser FP , Burckstummer T , Bennett KL , Superti-Furga G , Colinge J |
Ref : BMC Syst Biol , 5 :17 , 2011 |
Abstract : |
PubMedSearch : Burkard_2011_BMC.Syst.Biol_5_17 |
PubMedID: 21269460 |
Gene_locus related to this paper: human-cb069 |