1. Gene
  2. AGXT - alanine--glyoxylate aminotransferase Gene

AGXT - alanine--glyoxylate aminotransferase Gene

Homo sapiens

Also known as AGT; PH1; SPT; AGT1; SPAT; TLH6; AGXT1; Ser-PyrAT

Gene ID: 189 | Gene type: protein coding

About AGXT

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:240,868,824-240,880,500 (from NCBI)

This gene has 4 transcripts (splice variants), 258 orthologues, 1 paralogue and is associated with 3 phenotypes. Restricted expression toward liver (RPKM 387.9).

Summary

This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]

AGXT Products(1)

mRNA Protein Name
NM_000030.3 NP_000021.1 alanine--glyoxylate aminotransferase

AGXT Protein Structure

Aminotran_5

Aminotran_5: Aminotransferase class-V (26 - 376)

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  • 392 a.a.
Protein Preferred Names Protein Names

alanine--glyoxylate aminotransferase

L-alanine: glyoxylate aminotransferase 1

Related Diseases

Diseases Alias
Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1

HP1

Glycolic Aciduria

Alanine-Glyoxylate Aminotransferase Deficiency

Hepatic Agt Deficiency

Oxalosis I

Primary Hyperoxaluria, Type I

Serine:Pyruvate Aminotransferase Deficiency

Hyperoxaluria, Primary, Type 1

Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

Serine Pyruvate Aminotransferase Deficiency

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Oxalosis 1

Hyperoxaluria Primary 1

Hyperoxaluria Primary Type I

Ph1

Primary Hyperoxaluria Type I

Oxalosis Type 1

2-Oxoglutarate Glyoxylate Carboligase Deficiency

Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I

Nephrocalcinosis

Hypercalcemic Nephropathy

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Urolithiasis
Hyperoxaluria, Primary, Type Ii

Primary Hyperoxaluria Type 2

D-Glycerate Dehydrogenase Deficiency

Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency

HP2

Oxalosis Ii

Glyceric Aciduria

L-Glyceric Aciduria

Primary Hyperoxaluria, Type Ii

Oxalosis 2

Hyperoxaluria Primary 2

Hyperoxaluria Primary Type Ii

Ph2

Primary Hyperoxaluria Type Ii

Nephrolithiasis, Calcium Oxalate

Kidney Stones

Calculus Of Kidney

Kidney Calculi

Nephrolithiasis

Renal Calculi

Calcium Oxalate Urolithiasis

CAON

Urolithiasis, Calcium Oxalate

Calcium Oxalate Nephrolithiasis

Kidney Stone

Nephrolith

Renal Calculus

Urinary Stones

Renal Stone

Calculus, Kidney

Calculus, Renal

Renal Lithiasis

Renal Stones

Urolithiasis

Renal Calculus Or Stone

Stone In Kidney

Nephritic Calculus

Multiple Kidney Calculi

Multiple Kidney Calculus

Nephrolithiasis Nos

Pelvic Nephrolithiasis

Pelviolithiasis

Pelvis Nephrolithiasis

Anterior Cerebral Artery Infarction

Infarction, Anterior Cerebral Artery

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Hyperoxaluria, Primary, Type Iii

Primary Hyperoxaluria Type 3

HP3

Ph Iii

Primary Hyperoxaluria Type Iii

Hyperoxaluria Primary 3

Hyperoxaluria Non-Hp1/Non-Hp2

Hyperoxaluria Non-Ph I/Ph Ii Form

Hyperoxaluria Primary Type Iii

Peroxisomal Disease

Peroxisomal Disorder

Peroxisomal Disorders

Peroxisomal Defects

End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5

Adenine Phosphoribosyltransferase Deficiency

Aprt Deficiency

2,8-Dihydroxyadenine Urolithiasis

APRTD

2,8-Dihydroxyadeninuria

Dihydroxyadeninuria

Urolithiasis, 2,8-Dihydroxyadenine

Urolithiasis, Dha

Nephrolithiasis, Dha

Dha Crystalline Nephropathy

Nephrolithiasis Dha

Urolithiasis Dha

Ureterolithiasis

Calculus Of Ureter

Ureteric Stone

Ureteral Calculi

Ureteric Calculus

Stone In The Ureter

Ureter Calculi

Ureteral Calculus Or Stone

Ureterolith

Ureterolithiasis Nos

Xanthinuria

Xanthine Dehydrogenase Deficiency

Xanthine Oxidase Deficiency

Hereditary Xanthinuria

Xanthic Urolithiasis

Xanthine Stone Disease

Xanthinuria, Type I

Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

Xdh Deficiency

Classic Xanthinuria

Xanthinuria, Type Ii

Classical Xanthinuria

Xanthine Calculus

Renal Tuberculosis

Tuberculosis, Renal

Tuberculosis Of Kidney

Tuberculosis Renal

Lower Urinary Tract Calculus

Calculus Of Lower Urinary Tract

Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Chromosome 2q37 Deletion Syndrome

Albright Hereditary Osteodystrophy-Like Syndrome

2q37 Microdeletion Syndrome

Brachydactyly-Intellectual Disability Syndrome

Deletion 2q37

2q37 Deletion Syndrome

Brachydactyly-Mental Retardation Syndrome

Bdmr

Albright Hereditary Osteodystrophy Type 3

Del(2)(Q37)

Monosomy 2q37qter

Albright'S Hereditary Osteodystrophy-Like Syndrome

Monosomy 2q37

Chromosome Deletion Syndrome 2q37

Spinocerebellar Ataxia 7

Spinocerebellar Ataxia Type 7

SCA7

Opca3

Opca Iii

Olivopontocerebellar Atrophy Iii

Opca With Retinal Degeneration

Opca With Macular Degeneration And External Ophthalmoplegia

Adca, Type Ii

Autosomal Dominant Cerebellar Ataxia Type 2

Olivopontocerebellar Atrophy 3

Autosomal Dominant Cerebellar Ataxia, Type Ii

Autosomal Dominant Cerebellar Ataxia Type Ii

Adca2

Adcaii

Ataxia With Pigmentary Retinopathy

Cerebellar Syndrome-Pigmentary Maculopathy Syndrome

Olivopontocerebellar Atrophy With Retinal Degeneration

Spinocerebellar Ataxia-7

Ataxia, Spinocerebellar, Type 7

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Cystinuria

CSNU

Cystinuria Type B

Cystinuria Type A

Cystinuria, Type I, Formerly

Csnu1, Formerly

Cystinuria, Type Ii, Formerly

Cystinuria, Type Iii, Formerly

Csnu3, Formerly

Cystinuria, Type Non-I, Formerly

Cystinuria-Lysinuria

Cystinuria-Lysinuria Syndrome

Csnu1

Csnu3

Cystinuria 1

Cystinuria Type A/B

Cystinuria Type I

Cystinuria Type Ii

Cystinuria Type Iii

Cystinuria Type Non-I

Cystinuria, Type A/B

Cystinuria Type 1

Cystinuria - Lysinuria

Csnu - [Cystinuria]

Cystine Disease

Galloway-Mowat Syndrome 1

Galloway Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Nephrosis-Microcephaly Syndrome

Camos

Scar5

GAMOS1

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Microcephaly, Hiatal Hernia And Nephrotic Syndrome

Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities

Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly

Scar5, Formerly

Spinocerebellar Ataxia Autosomal Recessive 5

Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities

Camos Syndrome

Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome

Galloway-Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive, 5

Galloway Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 5

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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
Rattus norvegicus AGXT RGD RGD:2073
Mus musculus AGXT MGD MGI:1329033
Bos taurus AGXT VGNC VGNC:25748
Felis catus AGXT VGNC VGNC:59693
Macaca mulatta AGXT VGNC VGNC:69756