Property Summary

NCBI Gene PubMed Count 2
PubMed Score 77.82
PubTator Score 27.51

Knowledge Summary


No data available

Gene RIF (3)

19758471 Observational study of gene-disease association. (HuGE Navigator)
19050702 Observational study of gene-disease association. (HuGE Navigator)
17123117 Point mutation of PCLN-1 is associated with familial hypomagnesemia with hypercalciuria

AA Sequence

AAVGLALLVSISNTYGLDYVHNLNLLQC                                               71 - 98

Text Mined References (13)

PMID Year Title
19758471 2009 MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
19050702 2008 Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk.
14760490 2004 Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.
12949126 2003 Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.
12840039 2003 Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.
11130070 2000 Mitochondrial genome variation and the origin of modern humans.
9806551 1998 Somatic mutations of the mitochondrial genome in human colorectal tumours.
8919866 1996 Comparison between the complete mitochondrial DNA sequences of Homo and the common chimpanzee based on nonchimeric sequences.
8680405 1995 Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations.
7530363 1995 Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.
7219534 1981 Sequence and organization of the human mitochondrial genome.
3921850 1985 Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
1757091 1991 Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.