• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AGXT (HGNC:341) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
alanine--glyoxylate aminotransferase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SPAT
Alias symbols
AGXT1, PH1, AGT, SPT, AGT1, TLH6, Ser-PyrAT
%HI
70.08(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.03(Read more about gnomAD LOEUF score)
Cytoband
2q37.3
Genomic Coordinates
GRCh37/hg19: chr2:241808241-241819917 NCBI Ensembl UCSC
GRCh38/hg38: chr2:240868824-240880500 NCBI Ensembl UCSC
MANE Select Transcript
NM_000030.3 ENST00000307503.4 (Read more about MANE Select)
Function
Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:24055001, PubMed:23229545, PubMed:26149463). Also catalyzes the transamination between L-serine and pyruvate and contributes to gluconeogenesis from the L-serine metabolism (PubMed:10347152). {ECO:0000269|PubMed:10347152, ECO:0000269|PubMed:10960483, ECO:0000269|PubMed:12777626, ECO:0000269|PubMed:23229545, ECO:0000269|... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-31599
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)