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GENE - TERM ANNOTATION REPORT

RGD ID: 1603632
Species: Homo sapiens
RGD Object: Gene
Symbol: TMEM126B
Name: transmembrane protein 126B
Acc ID: DOID:0060536
Term: mitochondrial complex I deficiency
Definition: A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. (DO)
Definition Source(s): http://www.omim.org/entry/252010 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
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