AGXT |
- 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:
- primary hyperoxaluria type 1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)