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FLASH GENE
Symbol TMEM126B contributors: mct - updated : 23-03-2016
HGNC name transmembrane protein 126B
HGNC id 30883
Corresponding disease
TMEM126BD TMEM126B deficiency with Mitochondrial complex I defect
Location 11q14.1      Physical location : 85.339.621 - 85.347.583
Synonym name uncharacterized hypothalamus protein HT007
Synonym symbol(s) HT007, MGC111203
DNA
TYPE functioning gene
STRUCTURE 7.97 kb     6 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 1038 - 230 - 2012 22982022
TMEM126B.1
6 - 1169 - 210 - 2012 22982022
TMEM126B.2
6 - 1110 22.6 200 - 2012 22982022
TMEM126B.5
6 - 1210 22.6 200 - 2012 22982022
4 - 916 - 184 - 2012 22982022
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   moderately
Reproductivefemale systemuteruscervix moderately
 female systemovary  moderately
 male systemtestis  moderately
Urinarybladder   predominantly
 kidney   predominantly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Tmem126b
Homologene
FAMILY
  • TMEM126 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text mitochondrial transmembrane protein
    basic FUNCTION
  • may be contribute to the neuroendocrine regulation (Hu 2000)
  • is required for assembly of complex I
  • characteristics of TIMMDC1, of another assembly factor, TMEM126B, and of NDUFA11 suggest that they all participate in constructing the membrane arm of complex I
  • mitochondrial transmembrane protein
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms a complex with other assembly factors: NDUFAF1, ACAD9, TIMMDC1 and ECSIT
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TIMMDC1 reciprocally associate with multiple components of the ECSIT-TMEM126B-ACAD9-NDUFAF1 assembly factor complex (MCIA complex), as well as subunits of the soluble and matrix arms
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TMEM126BD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS