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TMEM126B - transmembrane protein 126B Gene

Also Known as HT007; MC1DN29

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55863

About TMEM126B

Cytogenetic location: 11q14.1 Genomic coordinates (GRCh38): 11:85,628,573-85,636,540 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 18.2), fat (RPKM 17.4) and 25 other tissues.

Summary

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 with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9. [provided by RefSeq, Apr 2017]

TMEM126B Products (9)

mRNA	Protein	Name
NM_001193537.3	NP_001180466.1	complex I assembly factor TMEM126B, mitochondrial isoform b
NM_001193538.3	NP_001180467.1	complex I assembly factor TMEM126B, mitochondrial isoform c
NM_001256546.2	NP_001243475.1	complex I assembly factor TMEM126B, mitochondrial isoform c
NM_001256547.2	NP_001243476.1	complex I assembly factor TMEM126B, mitochondrial isoform d
NM_001350393.1	NP_001337322.1	complex I assembly factor TMEM126B, mitochondrial isoform e
NM_001350394.2	NP_001337323.1	complex I assembly factor TMEM126B, mitochondrial isoform f
NM_001350395.2	NP_001337324.1	complex I assembly factor TMEM126B, mitochondrial isoform g
NM_001350396.2	NP_001337325.1	complex I assembly factor TMEM126B, mitochondrial isoform h
NM_018480.7	NP_060950.3	complex I assembly factor TMEM126B, mitochondrial isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	27374773	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM126B Protein Structure

TMEM126

0
100
200
230 a.a.

Protein Preferred Names	Protein Names
complex I assembly factor TMEM126B, mitochondrial

TMEM126B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TMEM126B	Q8IUX1	MRFAP1L1	Homo sapiens	Q96HT8	Y2H Prey Pooling	25416956
Intra	TMEM126B	Q8IUX1	MRFAP1L1	Homo sapiens	Q96HT8	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Complex I Deficiency, Nuclear Type 29	MC1DN29 Mitochondrial Complex 1 Deficiency, Nuclear Type 29 Nuclear Type Mitochondrial Complex I Deficiency 29
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic Atrophy 7 OPA7 Autosomal Recessive Optic Atrophy, Opa7 Type Optic Atrophy-7 Atrophy, Optic, Type 7, With/Without Auditory Neuropathy
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Schizophrenia 2	SCZD2 Schizophrenia Susceptibility Locus, Chromosome 11q-Related Schizophrenia Susceptibility Locus Chromosome 11q-Related
Leukodystrophy	Leukodystrophies
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Myopathy	Muscular Diseases Myopathies
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14659	TMEM126B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TMEM126B	VGNC	VGNC:35959
Macaca mulatta	TMEM126B	VGNC	VGNC:79893
Mus musculus	TMEM126B	MGD	MGI:1915722
Rattus norvegicus	TMEM126B	RGD	RGD:1308371
Canis familiaris	TMEM126B	VGNC	VGNC:47460
Felis catus	TMEM126B	VGNC	VGNC:104337
Others	TMEM126B	NCBI