MTX1 (metaxin 1)

2014-11-01  

Identity

HGNC
LOCATION
1q22
LOCUSID
ALIAS
MTX,MTXN

Other Information

Locus ID:

NCBI: 4580
MIM: 600605
HGNC: 7504
Ensembl: ENSG00000173171

Variants:

dbSNP: 4580
ClinVar: 4580
TCGA: ENSG00000173171
COSMIC: MTX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173171ENST00000316721Q13505
ENSG00000173171ENST00000368376Q13505
ENSG00000173171ENST00000424959H0Y6Y5
ENSG00000173171ENST00000609421Q13505

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
176243302007The 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 DnaJC11.69
175106552007Conserved roles of Sam50 and metaxins in VDAC biogenesis.31
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
218373672011Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.6
150246292004A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.2
278451832017The phosphorylation of Metaxin 1 controls Bak activation during TNFα induced cell death.1

Citation

Dessen P

MTX1 (metaxin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70578/mtx1