Property Summary

NCBI Gene PubMed Count 13
PubMed Score 9.83
PubTator Score 9.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
hereditary spastic paraplegia -1.293 0.007
pancreatic ductal adenocarcinoma liver m... -2.832 0.008
ovarian cancer -1.600 0.000

Synonym

Accession Q9H061 B2R570 E9PI16
Symbols OPA7

Gene

Gene RIF (5)

PMID Text
23500070 TMEM126A is a mitochondrial located mRNA (MLR) that may be translated in the mitochondrial surface and the protein is subsequently imported to the inner membrane
22815638 The p.Arg55X mutation in TMEM126A, homozygous in all affected siblings and heterozygous in both unaffected parents, has been found in a Moroccan family with autosomal recessive optic atrophy.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20405026 The first detailed phenotyping of patients with autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy, is described.
19327736 TMEM126A encodes a transmembrane mitochondrial protein of unknown function, supporting the view that mitochondrial dysfunction may be a hallmark of inherited optic neuropathies including isolated autosomal-recessive forms.

AA Sequence

MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAALCGLIANSLFRRILNVTKARIAAGLP      1 - 70
MAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGLAARYQSALLPH     71 - 140
KGNILSYWIRTSKPVFRKMLFPILLQTMFSAYLGSEQYKLLIKALQLSEPGKEIH                   141 - 195
//

Text Mined References (17)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
23500070 2013 TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
22815638 2012 TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20405026 2010 Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.
19570815 2009 A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
19327736 2009 TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16381901 2006 The LIFEdb database in 2006.
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