Property Summary

NCBI Gene PubMed Count 8
Grant Count 43
R01 Count 24
Funding $9,078,575.58
PubMed Score 759.01
PubTator Score 14.68

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.410 0.000

Gene RIF (5)

PMID Text
24506201 An alternative splice variant of the mdN gene containing an 18-nucleotide insertion encoding 6 amino acids (GKWPAT) at the 3'-end of the penultimate exon 4 has been characterized.
20877624 Observational study of gene-disease association. (HuGE Navigator)
16004879 substrate specificity analysis of the human mitochondrial deoxyribonucleotidase
12352955 structures of dNT-2 in complex with bound phosphate and beryllium trifluoride plus thymidine as model for a phosphoenzyme-product complex
12124385 Overproduction in cultured cells and functional aspects

AA Sequence

MIRLGGWCARRLCSAAVPAGRRGAAGGLGLAGGRALRVLVDMDGVLADFEGGFLRKFRARFPDQPFIALE      1 - 70
DRRGFWVSEQYGRLRPGLSEKAISIWESKNFFFELEPLPGAVEAVKEMASLQNTDVFICTSPIKMFKYCP     71 - 140
YEKYAWVEKYFGPDFLEQIVLTRDKTVVSADLLIDDRPDITGAEPTPSWEHVLFTACHNQHLQLQPPRRR    141 - 210
LHSWADDWKAILDSKRPC                                                        211 - 228
//

Text Mined References (8)

PMID Year Title
24506201 2015 Kinetic and structural characterization of an alternatively spliced variant of human mitochondrial 5'(3')-deoxyribonucleotidase.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
16004879 2005 Structural basis for substrate specificity of the human mitochondrial deoxyribonucleotidase.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12352955 2002 Crystal structure of a human mitochondrial deoxyribonucleotidase.
12124385 2002 Human mitochondrial 5'-deoxyribonucleotidase. Overproduction in cultured cells and functional aspects.
10899995 2000 A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease.