TMEM126A - transmembrane protein 126A Gene

Also Known as OPA7

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84233

About TMEM126A

Cytogenetic location: 11q14.1 Genomic coordinates (GRCh38): 11:85,647,967-85,656,542 (from NCBI)

This gene has 6 transcripts (splice variants), 244 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 18.8), testis (RPKM 17.5) and 25 other tissues.

Summary

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 RefSeq, Sep 2011]

TMEM126A Products (2)

mRNA	Protein	Name
NM_001244735.2	NP_001231664.1	transmembrane protein 126A isoform 2
NM_032273.4	NP_115649.1	transmembrane protein 126A isoform 1

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial protein quality control	IDA IDA: Inferred from direct assay	38199007	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	33879611	GOA
involved in optic nerve development	IMP IMP: Inferred from mutant phenotype	19327736	GOA
involved in protein insertion into mitochondrial inner membrane from matrix	IDA IDA: Inferred from direct assay	38199007	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	38199007	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	19327736	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

TMEM126A Protein Structure

TMEM126

0
100
195 a.a.

Protein Preferred Names	Protein Names
transmembrane protein 126A

Related Diseases

Diseases	Alias
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
Scotoma	Enlarged Blind Spot Scotoma Of Blind Spot Area Blind Spot Area Scotoma Enlarged Angioscotoma Enlarged Paracaecal Scotoma Generalized Visual Field Contraction Or Constriction Sector Or Arcuate Visual Field Defects
Optic Atrophy 6	OPA6 Optic Atrophy, Congenital Or Early Infantile, Autosomal Recessive
Optic Atrophy 3, Autosomal Dominant	Optic Atrophy 3 OPA3 Autosomal Dominant Optic Atrophy And Cataract Optic Atrophy And Cataract, Autosomal Dominant Autosomal Dominant Optic Atrophy Type 3 Optic Atrophy 3 With Cataract Opa3, Autosomal Dominant Adoac Optic Atrophy, Cataract, And Neurologic Disorder Autosomal Dominant Optic Atrophy 3 Optic Atrophy Type 3 Optic Atrophy 3 Autosomal Dominant Atrophy, Optic, Type 3, Autosomal Dominant 3-Methylglutaconic Aciduria Type 3
Behr Syndrome	BEHRS Abortive Cerebellar Ataxia Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss Obsolete: Behr Syndrome Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
Toxic Optic Neuropathy
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Peripheral Neuropathy And Optic Atrophy Cmt6 Charcot-Marie-Tooth Disease Type 6 Hmsn Vi HMSN6A Hmsn Via Hmsn6 Cmt6a Charcot-Marie-Tooth Disease, Type 6 Hereditary Motor And Sensory Neuropathy Type 6 Hereditary Motor And Sensory Neuropathy Type Vi Neuropathy, Hereditary Motor And Sensory, Type 6a Neuropathy, Hereditary Motor And Sensory, Type Vi Charcot-Marie-Tooth Disease, Type 6a Hereditary Motor And Sensory Neuropathy Via Hmsn 6 Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy Charcot-Marie-Tooth Disease 6 Charcot-Marie-Tooth Disease 6a Hereditary Motor And Sensory Neuropathy Type Via Hereditary Motor And Sensory Neuropathy Vi
Pontocerebellar Hypoplasia, Type 1e	Pontocerebellar Hypoplasia Type 1 PCH1E Norman Disease Pch1 Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia Type 1e Pontocerebellar Hypoplasia 1e Doid:0112322 Doid:0112330
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Infantile Cerebellar-Retinal Degeneration	ICRD Infantile Cerebellar Retinal Degeneration Degeneration, Cerebellar-Retinal, Infantile
Tritanopia	Blue Color Blindness Colorblindness, Tritan Blue Colorblindness CBT Colorblindness, Tritanopic Tritan Defect Blue Colour Blindness Congenital Tritanopia Tritan Colour Blindness Tritan Color Blindness Color Vision Defects Color Blindness, Blue Color Vision Defect Color Blindness
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
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Wolfram Syndrome 2	WFS2
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Wolfram Syndrome	Didmoad Syndrome Didmoad Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Wfs Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness Didmoadud Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

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-RS14658	TMEM126A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TMEM126A	VGNC	VGNC:107653
Canis familiaris	TMEM126A	VGNC	VGNC:47459
Rattus norvegicus	TMEM126A	RGD	RGD:1305677
Bos taurus	TMEM126A	VGNC	VGNC:97318
Mus musculus	TMEM126A	MGD	MGI:1913521
Others	TMEM126A	NCBI