1. Gene
  2. TMEM126A - transmembrane protein 126A Gene

TMEM126A - transmembrane protein 126A Gene

Homo sapiens

Also known as OPA7

Gene ID: 84233 | Gene type: protein coding

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

TMEM126A Protein Structure

TMEM126

TMEM126: Transmembrane protein 126 (6 - 190)

  • 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

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