Property Summary

NCBI Gene PubMed Count 7
Grant Count 1
Funding $49,000
PubMed Score 12.34
PubTator Score 6.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (3)

Expression

Synonym

Accession P0DJ07
Symbols C19orf79

Gene

 Grant Application (1)

Gene RIF (3)

PMID Text
24462369 We identify PET100 as a complex IV biogenesis factor in humans and characterize its location and role in mitochondria.We found PET100 (MIM 614770) mutations in ten Lebanese individuals with Leigh syndrome and isolated complex IV deficiency.
22356826 Protein identified in mammalian mitochondria
22356826 COX assembly candidate, ortholog of fungal PET100

AA Sequence

MGVKLEIFRMIIYLTFPVAMFWVSNQAEWFEDDVIQRKRELWPPEKLQEIEEFKERLRKRREEKLLRDAQ      1 - 70
QNS                                                                        71 - 73
//

Text Mined References (8)

PMID Year Title
24462369 2014 A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
22356826 2012 Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057824 2004 The DNA sequence and biology of human chromosome 19.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.