• Gene id: 55863

Gene Summary

• Gene Symbol: TMEM126B   Gene   UCSC   Ensembl
• Aliases: HT007, MC1DN29
• Gene name: transmembrane protein 126B
• Alternate names: complex I assembly factor TMEM126B, mitochondrial,
• Gene location: 11q14.1 (85628572: 85636539)     Exons: 7     NC_000011.10
• Gene summary(Entrez): This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts
• OMIM: 615533

Protein Summary

• Protein general information: Q8IUX1  
  • Name: Complex I assembly factor TMEM126B, mitochondrial (Transmembrane protein 126B)
  • Length: 230  
  • Mass: 25943
• Sequence:

  MVVFGYEAGTKPRDSGVVPVGTEEAPKVFKMAASMHGQPSPSLEDAKLRRPMVIEIIEKNFDYLRKEMTQNIYQM
  ATFGTTAGFSGIFSNFLFRRCFKVKHDALKTYASLATLPFLSTVVTDKLFVIDALYSDNISKENCVFRSSLIGIV
  CGVFYPSSLAFTKNGRLATKYHTVPLPPKGRVLIHWMTLCQTQMKLMAIPLVFQIMFGILNGLYHYAVFEETLEK
  TIHEE

• Structural information:
  • Interpro: IPR009801  
  • STRING: ENSP00000351737
• Other Databases: GeneCards:  TMEM126B  Malacards:  TMEM126B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032981	mitochondrial respiratory chain complex I assembly	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Mitochondrial complex I deficiency	KEGG:H00473
Mitochondrial complex I deficiency	KEGG:H00473
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881