Details for: AGXT

Gene ID: 189

Symbol: AGXT

Ensembl ID: ENSG00000172482

Description: alanine--glyoxylate aminotransferase

Associated with

Cells (max top 100)

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

  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 6.69
    Marker Score: 8,279
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 3.76
    Marker Score: 6,845
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 3.52
    Marker Score: 18,908
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 3.04
    Marker Score: 9,960
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 2.94
    Marker Score: 4,063
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.33
    Marker Score: 14,966
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 2.33
    Marker Score: 10,043
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.84
    Marker Score: 1,975
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 1.65
    Marker Score: 513
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.51
    Marker Score: 3,134
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.33
    Marker Score: 909
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.33
    Marker Score: 554
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.3
    Marker Score: 942
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.28
    Marker Score: 2,424
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.13
    Marker Score: 1,200
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.1
    Marker Score: 644
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.08
    Marker Score: 2,537
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.05
    Marker Score: 6,363
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.04
    Marker Score: 706
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 1
    Marker Score: 664
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,833
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,059
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1
    Marker Score: 513
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.99
    Marker Score: 273
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.99
    Marker Score: 466
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,342
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 329
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.86
    Marker Score: 344
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.86
    Marker Score: 496
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.85
    Marker Score: 471
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 708
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3,055
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.72
    Marker Score: 11,329
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.69
    Marker Score: 695
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.67
    Marker Score: 636
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.66
    Marker Score: 250
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.66
    Marker Score: 422
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.62
    Marker Score: 495
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.59
    Marker Score: 231
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.57
    Marker Score: 569
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.56
    Marker Score: 176
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.56
    Marker Score: 334
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.53
    Marker Score: 1,081
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.51
    Marker Score: 816
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.51
    Marker Score: 3,051
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.49
    Marker Score: 107
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.49
    Marker Score: 182
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 280
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.46
    Marker Score: 202
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.43
    Marker Score: 1,541
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.39
    Marker Score: 388
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.38
    Marker Score: 370
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.37
    Marker Score: 418
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.34
    Marker Score: 599
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.33
    Marker Score: 206
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.32
    Marker Score: 513
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.31
    Marker Score: 148
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.24
    Marker Score: 183
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 66
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.22
    Marker Score: 99
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.22
    Marker Score: 195
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.22
    Marker Score: 148
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 70
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.2
    Marker Score: 180
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2
    Marker Score: 90
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.19
    Marker Score: 146
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.19
    Marker Score: 196
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.19
    Marker Score: 98
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 0.17
    Marker Score: 155
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.17
    Marker Score: 61
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.16
    Marker Score: 1,081
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.16
    Marker Score: 153
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.16
    Marker Score: 49
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.15
    Marker Score: 48
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.15
    Marker Score: 103
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.14
    Marker Score: 131
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 0.13
    Marker Score: 89
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.12
    Marker Score: 63
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.11
    Marker Score: 74
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.11
    Marker Score: 50
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.11
    Marker Score: 28
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.11
    Marker Score: 254
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.1
    Marker Score: 136
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.1
    Marker Score: 56
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1
    Marker Score: 40
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.09
    Marker Score: 435
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.09
    Marker Score: 139
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.09
    Marker Score: 29
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.09
    Marker Score: 51
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.09
    Marker Score: 59
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.08
    Marker Score: 2,707
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.08
    Marker Score: 248
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.08
    Marker Score: 47
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.07
    Marker Score: 74

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:

P21549 Q53QU6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 9 ChEMBL 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 7 EC 2 EMBL 8 Ensembl 1 EvolutionaryTrace 1 GO 20 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 19 PDBsum 17 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 4 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

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.