SLC13A3 - solute carrier family 13 member 3 Gene

Homo sapiens

Also known as NaC3; NADC3; SDCT2; ARLIAK

Gene ID: 64849 | Gene type: protein coding

About SLC13A3

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:46,557,828-46,684,485 (from NCBI)

This gene has 11 transcripts (splice variants), 216 orthologues, 5 paralogues and is associated with 1 phenotype. Biased expression in kidney (RPKM 195.8) and placenta (RPKM 14.9).

Summary

Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]

SLC13A3 Products(5)

mRNA	Protein	Name
NM_001011554.3	NP_001011554.1	Na(+)/dicarboxylate cotransporter 3 isoform b
NM_001193339.2	NP_001180268.1	Na(+)/dicarboxylate cotransporter 3 isoform c precursor
NM_001193340.2	NP_001180269.1	Na(+)/dicarboxylate cotransporter 3 isoform d
NM_001193342.2	NP_001180271.1	Na(+)/dicarboxylate cotransporter 3 isoform e
NM_022829.6	NP_073740.2	Na(+)/dicarboxylate cotransporter 3 isoform a precursor

SLC13A3 Protein Structure

Na_sulph_symp

0
100
200
300
400
500
602 a.a.

Protein Preferred Names

Protein Names

Na(+)/dicarboxylate cotransporter 3

Na(+)-coupled carboxylate transporter 3

Related Diseases

Diseases

Alias

Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate

ARLIAK	Acute Reversible Leukoencephalopathy With Increased Urinary Alpha-Ketoglutarate
Acute Reversible Leukoencephalopathy Due To Slc13a3 Deficiency	Acute Reversible Leukoencephalopathy Due To Sodium-Dependent Dicarboxylate Transporter Deficiency

Axenfeld-Rieger Syndrome, Type 1

Axenfeld-Rieger Syndrome Type 1	RIEG1
Rieg	Rgs
Rieger Syndrome Type 1	Rieger Syndrome, Type 1
Axenfeld-Rieger Syndrome 1	Iridogoniodysgenesis With Somatic Anomalies

Canavan Disease

Aspartoacylase Deficiency	Aminoacylase 2 Deficiency
Spongy Degeneration Of Central Nervous System	Aspa Deficiency
Acy2 Deficiency	Canavan-Van Bogaert-Bertrand Disease
Mild Canavan Disease	Asp Deficiency
Spongy Degeneration Of The Central Nervous System	Severe Canavan Disease
Von Bogaert-Bertrand Disease	Canavan'S Disease
Spongy Degeneration Of The Brain	Juvenile Canavan Disease
Infantile Canavan Disease	Neonatal Canavan Disease
CAND	Disease, Canavan
Canavan Disease, Juvenile	Canavan Disease, Infantile
Canavan Disease, Neonatal

Developmental And Epileptic Encephalopathy 25

Developmental And Epileptic Encephalopathy, 25	Dee25
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta	Early Infantile Epileptic Encephalopathy 25
Encephalopathy, Epileptic, Early Infantile, Type 25

N-Acetylglutamate Synthase Deficiency

Nags Deficiency	N-Acetylglutamate Synthetase Deficiency
Hyperammonemia, Type Iii	Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency
NAGSD	Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
N-Acetyl Glutamate Synthetase Deficiency	Nag Synthetase Deficiency
Deficiency, N-Acetylglutamate Synthase

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

L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia	L2HGA
L-2-Hga	Aciduria, L-2-Hydroxyglutaric
Combined D-2- And L-2-Hydroxyglutaric Aciduria

Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency	GA1
Glutaric Acidemia Type 1	Glutaric Aciduria 1
Glutaric Aciduria Type 1	Glutaric Acidemia Type I
Glutaric Aciduria, Type 1	Glutaric Aciduria I
Ga I	Glutaricaciduria, Type I
Glutaryl-Coenzyme A Dehydrogenase Deficiency	Glutaric Academia Type 1
Glutaric Aciduria Type I	Ga-1
Gcdh Deficiency	Ga 1
Glutaric Acidemia 1	Gcdhd
Glutaric Aciduria, Type I	Glutaricaciduria I
Ga-I	Glutaricaciduria, Type 1

Axenfeld-Rieger Syndrome

Axenfeld Syndrome	Rieger Syndrome
Rieger Anomaly	Axenfeld Anomaly
Anomaly, Rieger'S	Hagedoom Syndrome
Rgs - Rieger Syndrome	Rieger'S Anomaly
Goniodysgenesis Hypodontia	Iridogoniodysgenesis With Somatic Anomalies
Ars	Axenfeld And Rieger Anomaly
Axra	Axrs
Rieger Eye Malformation Sequence

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13007	SLC13A3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC13A3	VGNC	VGNC:46229
Macaca mulatta	SLC13A3	VGNC	VGNC:77476
Bos taurus	SLC13A3	VGNC	VGNC:34675
Felis catus	SLC13A3	VGNC	VGNC:65198
Rattus norvegicus	SLC13A3	RGD	RGD:628786
Mus musculus	SLC13A3	MGD	MGI:2149635

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