MGME1 (GeneName), Mitochondrial genome maintenance exonuclease 1 (ProteinName), MGME1_HUMAN.
Human MGME1/ Mitochondrial genome maintenance exonuclease 1 ELISA Kit
Natural and recombinant human Mitochondrial genome maintenance exonuclease 1
Serum, plasma, tissue homogenates, cell culture supernates and other biological fluids
The linearity of the kit was assayed by testing samples spiked with appropriate concentration of Mitochondrial genome maintenance exonuclease 1 and their serial dilutions. The results were demonstrated by the percentage of calculated concentration to the expected.
Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells.
MKMKLFQTIC | RQLRSSKFSV | ESAALVAFST | SSYSCGRKKK | VNPYEEVDQE |
KYSNLVQSVL | SSRGVAQTPG | SVEEDALLCG | PVSKHKLPNQ | GEDRRVPQNW |
FPIFNPERSD | KPNASDPSVP | LKIPLQRNVI | PSVTRVLQQT | MTKQQVFLLE |
RWKQRMILEL | GEDGFKEYTS | NVFLQGKRFH | EALESILSPQ | ETLKERDENL |
LKSGYIESVQ | HILKDVSGVR | ALESAVQHET | LNYIGLLDCV | AEYQGKLCVI |
DWKTSEKPKP | FIQSTFDNPL | QVVAYMGAMN | HDTNYSFQVQ | CGLIVVAYKD |
GSPAHPHFMD | AELCSQYWTK | WLLRLEEYTE | KKKNQNIQKP | EYSE
This product has not yet been referenced specifically in any publications.
"Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease."
"Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels."
"Dynamic readers for 5-(hydroxy)methylcytosine and its oxidized derivatives."
"Complete sequencing and characterization of 21,243 full-length human cDNAs."
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
"The DNA sequence and comparative analysis of human chromosome 20."
"Mass spectrometry analyses of normal and polyglutamine expanded ataxin-3 reveal novel interaction partners involved in mitochondrial function."
"Architecture of the human interactome defines protein communities and disease networks."
"Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia."
"A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling."
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