Details for: AGXT

Gene ID: 189

Symbol: AGXT

Ensembl ID: ENSG00000172482

Description: alanine--glyoxylate aminotransferase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 11.6515
    Cell Significance Index: 195.9700
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 9.4691
    Cell Significance Index: 141.6700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 5.1974
    Cell Significance Index: 87.5500
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 4.5189
    Cell Significance Index: 91.9500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 3.4642
    Cell Significance Index: 102.0400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.9061
    Cell Significance Index: 178.1700
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 2.1918
    Cell Significance Index: 8.2600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.2676
    Cell Significance Index: 18.7100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.0490
    Cell Significance Index: 208.1700
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.8655
    Cell Significance Index: 6.6500
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.8448
    Cell Significance Index: 4.8700
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 0.6899
    Cell Significance Index: 1.8200
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.5676
    Cell Significance Index: 5.6000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5169
    Cell Significance Index: 31.0300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.5103
    Cell Significance Index: 12.3600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4522
    Cell Significance Index: 408.3400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4256
    Cell Significance Index: 46.2900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.3771
    Cell Significance Index: 5.4000
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: 0.3500
    Cell Significance Index: 6.9800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3129
    Cell Significance Index: 50.8900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.2695
    Cell Significance Index: 9.4400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2379
    Cell Significance Index: 23.5300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2301
    Cell Significance Index: 15.9200
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.2145
    Cell Significance Index: 2.7600
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 0.1624
    Cell Significance Index: 0.4400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1445
    Cell Significance Index: 6.5500
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.1254
    Cell Significance Index: 1.8200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1059
    Cell Significance Index: 3.0400
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.1002
    Cell Significance Index: 0.7600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0767
    Cell Significance Index: 2.2100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0762
    Cell Significance Index: 1.6500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0730
    Cell Significance Index: 13.9000
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.0589
    Cell Significance Index: 0.5600
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.0475
    Cell Significance Index: 0.3800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0310
    Cell Significance Index: 0.8300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0291
    Cell Significance Index: 0.6200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0202
    Cell Significance Index: 0.7100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0111
    Cell Significance Index: 0.1200
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.0101
    Cell Significance Index: 0.0400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0097
    Cell Significance Index: 1.1100
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.0054
    Cell Significance Index: 0.0700
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.0015
    Cell Significance Index: 0.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0012
    Cell Significance Index: -2.2300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0026
    Cell Significance Index: -1.4800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0027
    Cell Significance Index: -1.9700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0028
    Cell Significance Index: -1.5300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0044
    Cell Significance Index: -0.3500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0045
    Cell Significance Index: -0.5200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0052
    Cell Significance Index: -0.2100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0060
    Cell Significance Index: -2.1600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0064
    Cell Significance Index: -4.7100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0077
    Cell Significance Index: -1.5400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0088
    Cell Significance Index: -3.9900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0090
    Cell Significance Index: -1.5300
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0094
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0096
    Cell Significance Index: -2.0300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0124
    Cell Significance Index: -0.3500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0143
    Cell Significance Index: -0.3900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0150
    Cell Significance Index: -0.4000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0153
    Cell Significance Index: -2.1100
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0157
    Cell Significance Index: -0.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0161
    Cell Significance Index: -2.0800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0164
    Cell Significance Index: -0.4100
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0200
    Cell Significance Index: -0.3500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0213
    Cell Significance Index: -2.2200
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: -0.0230
    Cell Significance Index: -0.2300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0238
    Cell Significance Index: -1.5000
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0240
    Cell Significance Index: -0.2900
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.0249
    Cell Significance Index: -0.2600
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0265
    Cell Significance Index: -0.3800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0268
    Cell Significance Index: -0.5600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0285
    Cell Significance Index: -0.4300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0290
    Cell Significance Index: -2.1700
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.0322
    Cell Significance Index: -0.4200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0331
    Cell Significance Index: -0.3600
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.0352
    Cell Significance Index: -0.4200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0367
    Cell Significance Index: -5.3300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0367
    Cell Significance Index: -2.4700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0370
    Cell Significance Index: -0.6100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0371
    Cell Significance Index: -1.9500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0377
    Cell Significance Index: -0.9400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0382
    Cell Significance Index: -1.2500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0390
    Cell Significance Index: -3.9800
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0399
    Cell Significance Index: -0.3100
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0419
    Cell Significance Index: -0.5700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0451
    Cell Significance Index: -2.1200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0452
    Cell Significance Index: -1.4400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0453
    Cell Significance Index: -1.4500
  • Cell Name: deuterosomal cell (CL4033044)
    Fold Change: -0.0459
    Cell Significance Index: -0.3600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0460
    Cell Significance Index: -0.6900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0474
    Cell Significance Index: -0.8200
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.0477
    Cell Significance Index: -0.5100
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: -0.0481
    Cell Significance Index: -0.4300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0483
    Cell Significance Index: -2.5100
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0495
    Cell Significance Index: -0.5400
  • Cell Name: plasmablast (CL0000980)
    Fold Change: -0.0501
    Cell Significance Index: -0.4700
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.0507
    Cell Significance Index: -0.5600
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.0514
    Cell Significance Index: -0.5300
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.0529
    Cell Significance Index: -0.5500
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: -0.0535
    Cell Significance Index: -0.4900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Catalytic Activity**: AGXT catalyzes the transamination of glyoxylate, converting it into glycine and oxaloacetate, thereby regulating glyoxylate metabolism. 2. **Subcellular Localization**: AGXT is primarily localized to the peroxisomal matrix, where it plays a key role in glyoxylate catabolism. 3. **Cellular Expression**: AGXT is expressed in a wide range of cell types, including oligodendrocyte precursor cells, microglial cells, hepatocytes, and kidney proximal convoluted tubule epithelial cells. 4. **Regulatory Mechanisms**: AGXT is regulated by various mechanisms, including allosteric inhibition, post-translational modifications, and transcriptional control. **Pathways and Functions** AGXT is involved in several key pathways, including: 1. **Glyoxylate Catabolism**: AGXT catalyzes the transamination of glyoxylate, converting it into glycine and oxaloacetate, thereby regulating glyoxylate metabolism. 2. **Amino Acid Metabolism**: AGXT plays a role in the catabolism of amino acids such as alanine and serine, regulating their metabolism and preventing the accumulation of toxic metabolites. 3. **Peroxisomal Function**: AGXT is localized to the peroxisomal matrix, where it contributes to the regulation of peroxisomal function and the maintenance of cellular homeostasis. 4. **Notch Signaling Pathway**: AGXT has been implicated in the Notch signaling pathway, a critical regulator of cell fate and differentiation. **Clinical Significance** Dysregulation of AGXT has been associated with various diseases, including: 1. **Hypoglyoxalineemia**: A rare genetic disorder characterized by the accumulation of glyoxylate and its derivatives, leading to tissue damage and organ dysfunction. 2. **Peroxisomal Disorders**: AGXT dysfunction has been linked to various peroxisomal disorders, including Zellweger syndrome and neonatal adrenoleukodystrophy. 3. **Neurological Disorders**: AGXT has been implicated in the pathogenesis of neurological disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, AGXT is a critical enzyme involved in the regulation of glyoxylate metabolism and the maintenance of cellular homeostasis. Its dysregulation has been associated with various diseases, highlighting the importance of this enzyme in human health and disease.

Genular Protein ID: 1927770238

Symbol: AGT1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2253628

Title: Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase.

PubMed ID: 2253628

DOI: 10.1111/j.1432-1033.1990.tb19420.x

PubMed ID: 1703535

Title: Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.

PubMed ID: 1703535

DOI: 10.1083/jcb.111.6.2341

PubMed ID: 2363689

Title: Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon.

PubMed ID: 2363689

DOI: 10.1042/bj2680517

PubMed ID: 2045108

Title: Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase.

PubMed ID: 2045108

DOI: 10.1016/0888-7543(91)90481-s

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10347152

Title: Flux of the L-serine metabolism in rabbit, human, and dog livers. Substantial contributions of both mitochondrial and peroxisomal serine:pyruvate/alanine:glyoxylate aminotransferase.

PubMed ID: 10347152

DOI: 10.1074/jbc.274.23.16028

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 12899834

Title: Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.

PubMed ID: 12899834

DOI: 10.1016/s0022-2836(03)00791-5

PubMed ID: 2039493

Title: Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.

PubMed ID: 2039493

DOI: 10.1016/0006-291x(91)90396-o

PubMed ID: 1349575

Title: A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1.

PubMed ID: 1349575

DOI: 10.1016/0888-7543(92)90225-h

PubMed ID: 1301173

Title: A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.

PubMed ID: 1301173

DOI: 10.1093/hmg/1.8.643

PubMed ID: 8101040

Title: Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.

PubMed ID: 8101040

PubMed ID: 8507692

Title: Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.

PubMed ID: 8507692

DOI: 10.1016/0300-9084(93)90091-6

PubMed ID: 9192270

Title: Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.

PubMed ID: 9192270

DOI: 10.1136/jmg.34.6.489

PubMed ID: 9604803

Title: Identification of new mutations in primary hyperoxaluria type 1 (PH1).

PubMed ID: 9604803

PubMed ID: 10394939

Title: Gene symbol: AGXT. Disease: primary hyperoxaluria type I.

PubMed ID: 10394939

DOI: 10.1007/s004390050984

PubMed ID: 10453743

Title: Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.

PubMed ID: 10453743

DOI: 10.1007/s004390050998

PubMed ID: 10541294

Title: Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group.

PubMed ID: 10541294

DOI: 10.1681/asn.v10112352

PubMed ID: 10862087

Title: Identification of 5 novel mutations in the AGXT gene.

PubMed ID: 10862087

DOI: 10.1002/1098-1004(200006)15:6<577::aid-humu9>3.0.co;2-#

PubMed ID: 10960483

Title: Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.

PubMed ID: 10960483

DOI: 10.1074/jbc.m006693200

PubMed ID: 12559847

Title: The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.

PubMed ID: 12559847

DOI: 10.1016/s1096-7192(02)00204-4

PubMed ID: 12777626

Title: Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.

PubMed ID: 12777626

DOI: 10.1073/pnas.1131968100

PubMed ID: 15253729

Title: Clinical implications of mutation analysis in primary hyperoxaluria type 1.

PubMed ID: 15253729

DOI: 10.1111/j.1523-1755.2004.00796.x

PubMed ID: 15849466

Title: Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.

PubMed ID: 15849466

DOI: 10.1159/000085411

PubMed ID: 15961946

Title: Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.

PubMed ID: 15961946

DOI: 10.1159/000086357

PubMed ID: 15963748

Title: The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.

PubMed ID: 15963748

DOI: 10.1016/j.ymgme.2005.05.005

PubMed ID: 16971151

Title: Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.

PubMed ID: 16971151

DOI: 10.1016/j.ymgme.2006.07.013

PubMed ID: 17495019

Title: Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.

PubMed ID: 17495019

DOI: 10.1373/clinchem.2006.084434

PubMed ID: 24055001

Title: Gly161 mutations associated with primary hyperoxaluria type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.

PubMed ID: 24055001

DOI: 10.1016/j.bbadis.2013.09.002

PubMed ID: 23229545

Title: Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.

PubMed ID: 23229545

DOI: 10.1074/jbc.m112.432617

PubMed ID: 24934730

Title: Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.

PubMed ID: 24934730

DOI: 10.1186/1471-2369-15-92

PubMed ID: 26149463

Title: Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.

PubMed ID: 26149463

DOI: 10.1016/j.bbapap.2015.07.002

Sequence Information:

  • Length: 392
  • Mass: 43010
  • Checksum: 2987DDE85B2470B4
  • Sequence:
  • MASHKLLVTP PKALLKPLSI PNQLLLGPGP SNLPPRIMAA GGLQMIGSMS KDMYQIMDEI 
    KEGIQYVFQT RNPLTLVISG SGHCALEAAL VNVLEPGDSF LVGANGIWGQ RAVDIGERIG 
    ARVHPMTKDP GGHYTLQEVE EGLAQHKPVL LFLTHGESST GVLQPLDGFG ELCHRYKCLL 
    LVDSVASLGG TPLYMDRQGI DILYSGSQKA LNAPPGTSLI SFSDKAKKKM YSRKTKPFSF 
    YLDIKWLANF WGCDDQPRMY HHTIPVISLY SLRESLALIA EQGLENSWRQ HREAAAYLHG 
    RLQALGLQLF VKDPALRLPT VTTVAVPAGY DWRDIVSYVI DHFDIEIMGG LGPSTGKVLR 
    IGLLGCNATR ENVDRVTEAL RAALQHCPKK KL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.