1. Gene
  2. SLC25A22 - solute carrier family 25 member 22 Gene

SLC25A22 - solute carrier family 25 member 22 Gene

Homo sapiens

Also known as GC1; DEE3; GC-1; EIEE3; NET44

Gene ID: 79751 | Gene type: protein coding

About SLC25A22

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:790,475-798,281 (from NCBI)

This gene has 31 transcripts (splice variants), 119 orthologues, 49 paralogues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 22.0), testis (RPKM 5.8) and 24 other tissues.

Summary

This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]

SLC25A22 Products(3)

mRNA Protein Name
NM_001191060.2 NP_001177989.1 mitochondrial glutamate carrier 1
NM_001191061.2 NP_001177990.1 mitochondrial glutamate carrier 1
NM_024698.6 NP_078974.1 mitochondrial glutamate carrier 1

SLC25A22 Protein Structure

Mito_carr

Mito_carr: Mitochondrial carrier protein (5 - 97)

Mito_carr

Mito_carr: Mitochondrial carrier protein (100 - 212)

Mito_carr

Mito_carr: Mitochondrial carrier protein (222 - 306)

  • 0
  • 100
  • 200
  • 300
  • 323 a.a.
Protein Preferred Names Protein Names

mitochondrial glutamate carrier 1

Early infantile epileptic encephalopathy 3

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 3

Epileptic Encephalopathy, Early Infantile, 3

DEE3

Eiee3

Early Myoclonic Encephalopathy

Developmental And Epileptic Encephalopathy, 3

Early Infantile Epileptic Encephalopathy 3

Eme

Neonatal Epilepsy With Suppression-Burst Pattern

Encephalopathy, Epileptic, Early Infantile, Type 3

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Developmental And Epileptic Encephalopathy 14

Malignant Migrating Partial Seizures Of Infancy

Eiee14

Epilepsy Of Infancy With Migrating Focal Seizures

Mmpsi

DEE14

Epileptic Encephalopathy, Early Infantile, 14

Early Infantile Epileptic Encephalopathy 14

Malignant Migrating Partial Epilepsy Of Infancy

Migrating Partial Epilepsy Of Infancy

Migrating Partial Seizures Of Infancy

Mmpei

Mpei

Mpsi

Malignant Migrating Focal Seizures Of Infancy

Migrating Partial Seizures In Infancy

Developmental And Epileptic Encephalopathy, 14

Encephalopathy, Epileptic, Early Infantile, Type 14

Ohtahara Syndrome
Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome

Developmental And Epileptic Encephalopathy 8

DEE8

Epileptic Encephalopathy, Early Infantile, 8

Eiee8

Hyperekplexia And Epilepsy

Developmental And Epileptic Encephalopathy, 8

Early Infantile Epileptic Encephalopathy 8

Hyperekplexia-Epilepsy Syndrome

Hyperekplexia With Epilepsy

Startle Disease With Epilepsy

Encephalopathy, Epileptic, Early Infantile, Type 8

Developmental And Epileptic Encephalopathy 2

Epileptic Encephalopathy, Early Infantile, 2

DEE2

Eiee2

Issx2

Developmental And Epileptic Encephalopathy, 2

Infantile Spasm Syndrome, X-Linked 2

Early Infantile Epileptic Encephalopathy 2

X-Linked Infantile Spasm Syndrome 2

Atypical Rett Syndrome Cdkl5-Related

Atypical Rett Syndrome Hanefeld Variant

Infantile Spasm Syndrome X-Linked 2

Rett Syndrome Early-Onset Seizure Variant

Rett Syndrome Variant With Infantile Spasms

Encephalopathy, Epileptic, Early Infantile, Type 2

Parkinson Disease 6, Autosomal Recessive Early-Onset

Autosomal Recessive Early-Onset Parkinson Disease 6

Parkinson Disease 6

PARK6

Parkinson Disease 6, Early Onset

Parkinson'S Disease 6

Parkinson Disease 6, Early-Onset

Autosomal Recessive Early-Onset Parkinson'S Disease 6

Early-Onset Parkinson Disease 6

Autosomal Recessive Early-Onset Parkinson Disease Type 6

Parkinson Disease 6 Early-Onset

Parkinson Disease 6 Late-Onset Susceptibility To

Parkinson Disease Autosomal Recessive Early-Onset Digenic Pink1/Dj1

Parkinsonism Young Adult Onset

Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1

Parkinson Disease, Type 6, Autosomal Recessive, Early-Onset

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Hhh Syndrome

Ornithine Translocase Deficiency

Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome

HHHS

Hhh

Triple H Syndrome

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Ornithine Translocase Deficiency Syndrome

Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome

Ornt1 Deficiency

Ornithine Carrier Deficiency

Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome

Partington Syndrome

X-Linked Reticulate Pigmentary Disorder

PRTS

Partington X-Linked Mental Retardation Syndrome

Mrxs1

Mrx36

Intellectual Developmental Disorder, X-Linked, Syndromic 1

Partington Disease

Pdr

Partington-Mulley Syndrome

Russell-Silver Syndrome, X-Linked

Mental Retardation, X-Linked, Syndromic 1

Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures

Mental Retardation, X-Linked 36

X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations

X-Linked Russell-Silver Syndrome

Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome

Intellectual Disability, X-Linked, Syndromic 1

Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures

Partington X-Linked Intellectual Disability Syndrome

X-Linked Intellectual Deficit-Dystonia-Dysarthria

X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures

Familial Cutaneous Amyloidosis

X-Linked Cutaneous Amyloidosis

Xlpdr

X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome

Pigmentary Disorder, Reticulate, With Systemic Manifestations

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral

Agc1 Deficiency

Epileptic Encephalopathy, Early Infantile, 39

DEE39

Eiee39

Aspartate-Glutamate Carrier 1 Deficiency

Epileptic Encephalopathy With Global Cerebral Demyelination

Developmental And Epileptic Encephalopathy, 39

Early Infantile Epileptic Encephalopathy 39

Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

Global Cerebral Hypomyelination

Hereditary Central Nervous System Demyelinating Diseases

Neonatal Period Electroclinical Syndrome
Infancy Electroclinical Syndrome
Oculogyric Crisis
Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1

Hermansky-Pudlak Syndrome 1

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

HPS1

Delta Storage Pool Disease

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Hermansky-Pudlak Syndrome, Type 1

Platelet Storage Pool Deficiency

Benign Neonatal Seizures

Benign Neonatal Epilepsy

Benign Familial Neonatal Seizures

Benign Neonatal Convulsions

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Epilepsy

Bfne

Bfns

Seizures, Benign Neonatal

Neonatal Convulsions Benign

Epilepsy, Benign Neonatal

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion

Familial Benign Neonatal Epilepsy

Benign Familial Neonatal Epilepsy

Familial Neonatal Seizures

Bfns

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Seizures

Epilepsy Benign Neonatal Familial

Familial Benign Neonatal Convulsions

Benign Neonatal Familial Convulsions

Familial Benign Neonatal Epilepsy

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion

Aicardi Syndrome

AIC

Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality

Agenesis Of Corpus Callosum With Chorioretinal Abnormality

Aicardi'S Syndrome

Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities

Callosal Agenesis And Ocular Abnormalities

Chorioretinal Anomalies With Acc

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia

Epilepsy, Pyridoxine-Dependent

Pyridoxine-Dependent Epilepsy

PDE

Pyridoxine Dependency With Seizures

Vitamin B6-Dependent Seizures

EPD

Aasa Dehydrogenase Deficiency

Antiquitin Deficiency

Pyridoxine Dependency

Glutamate Decarboxylase Deficiency

Pyridoxine-Dependent Seizures

Deficiency Of Glutamate Decarboxylase

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Mus musculus SLC25A22 MGD MGI:1915517
Felis catus SLC25A22 VGNC VGNC:65264
Rattus norvegicus SLC25A22 RGD RGD:1307826
Bos taurus SLC25A22 VGNC VGNC:34750
Macaca mulatta SLC25A22 VGNC VGNC:77519