• Gene id: 84233

Gene Summary

• Gene Symbol: TMEM126A   Gene   UCSC   Ensembl
• Aliases: OPA7
• Gene name: transmembrane protein 126A
• Alternate names: transmembrane protein 126A,
• Gene location: 11q14.1 (6943437: 6946002)     Exons: 4     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefS
• OMIM: 612988

Protein Summary

• Protein general information: Q9H061  
  • Name: Transmembrane protein 126A
  • Length: 195  
  • Mass: 21527
  • Tissue specificity: Strongly expressed in brain, cerebellum, skeletal muscle, testis. High expression also found in fetal brain, fetal retinal pigmentary epithelium, and fetal retina. Highly expressed in retinal ganglion cells. {ECO
• Sequence:

  MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAALCGLIANSLFRRILNVTKARIAAGLPMAGIP
  FLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGLAARYQSALLPHKGNILSYWIR
  TSKPVFRKMLFPILLQTMFSAYLGSEQYKLLIKALQLSEPGKEIH

• Structural information:
  • Interpro: IPR009801  
  • STRING: ENSP00000306887
• Other Databases: GeneCards:  TMEM126A  Malacards:  TMEM126A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IBA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0021554	optic nerve development	IMP	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Optic atrophy	KEGG:H01020
Optic atrophy	KEGG:H01020
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray