SLC25A22 - solute carrier family 25 member 22 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79751

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables L-glutamate transmembrane transporter activity	IDA IDA: Inferred from direct assay	11897791	GOA
enables amino acid:proton symporter activity	IDA IDA: Inferred from direct assay	11897791	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in L-glutamate transmembrane transport	IDA IDA: Inferred from direct assay	11897791	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	11897791	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

SLC25A22 Protein Structure

Mito_carr

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13103	SLC25A22 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	SLC25A22	NCBI