Entity Details

Primary name T126B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IUX1
EntryNameT126B_HUMAN
FullNameComplex I assembly factor TMEM126B, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length230
SequenceStatuscomplete
DateCreated2007-03-20
DateModified2021-06-02

Ontological Relatives

GenesTMEM126B

GO terms

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GOName
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
GO:0032981 mitochondrial respiratory chain complex I assembly

Subcellular Location

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Subcellular Location
Mitochondrion membrane

Domains

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DomainNameCategoryType
IPR009801 Transmembrane protein 126FamilyFamily

Diseases

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Disease IDSourceNameDescription
618250 OMIMMitochondrial complex I deficiency, nuclear type 29 (MC1DN29)A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN29 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
T126B_HUMANMR1L1_HUMANBioGRID, IntAct25416956 details
T126B_HUMANA4_HUMANBioGRID21832049 details
T126B_HUMANAKT1_HUMANBioGRID29464284 details