Property Summary

NCBI Gene PubMed Count 17
PubMed Score 78.67
PubTator Score 220.58

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q13505 B1AVR9 B1AVS0 B2R9P4 Q9BUU3
Symbols MTX
MTXN

Gene

  Ortholog (7)

Gene RIF (5)

PMID Text
21837367 Results describe the association between the MTX1 and beta-glucocerebrosidase genes and its possible effect on Parkinson disease.
20877624 Observational study of gene-disease association. (HuGE Navigator)
17624330 mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import
17510655 The pathway of Voltage-dependent anion-selective channel biogenesis in human mitochondria involves the TOM complex, Sam50 and metaxins, and that it is evolutionarily conserved.
15024629 Single Nucleotide Polymorphism in metaxin 1 is associated with Gaucher disease

AA Sequence

MLLGGPPRSPRSGTSPKGPWSSTGHVQFGKSPQTWPRRTRPRSPEPAAPSGVRGSTWTRRRDTPRRAGPT      1 - 70
ALSRYVGHLWMGRRPPSPEARGPVPRSSAASRARRSLASPGISPGPLTATIGGAVAGGGPRQGRAEAHKE     71 - 140
VFPGQRVGKMAAPMELFCWSGGWGLPSVDLDSLAVLTYARFTGAPLKVHKISNPWQSPSGTLPALRTSHG    141 - 210
EVISVPHKIITHLRKEKYNADYDLSARQGADTLAFMSLLEEKLLPVLVHTFWIDTKNYVEVTRKWYAEAM    211 - 280
PFPLNFFLPGRMQRQYMERLQLLTGEHRPEDEEELEKELYREARECLTLLSQRLGSQKFFFGDAPASLDA    281 - 350
FVFSYLALLLQAKLPSGKLQVHLRGLHNLCAYCTHILSLYFPWDGAEVPPQRQTPAGPETEEEPYRRRNQ    351 - 420
ILSVLAGLAAMVGYALLSGIVSIQRATPARAPGTRTLGMAEEDEEE                            421 - 466
//

Text Mined References (25)

PMID Year Title
25997101 2015 QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25621951 2015 USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria.
22797727 2012 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
22114354 2012 MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization.
21837367 2011 Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17624330 2007 The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.
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