• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ABAT (HGNC:23) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
4-aminobutyrate aminotransferase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
GABAT, GABA-T
%HI
41.04(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
0.57(Read more about gnomAD LOEUF score)
Cytoband
16p13.2
Genomic Coordinates
GRCh37/hg19: chr16:8768474-8878427 NCBI Ensembl UCSC
GRCh38/hg38: chr16:8674617-8784570 NCBI Ensembl UCSC
MANE Select Transcript
NM_020686.6 ENST00000268251.13 (Read more about MANE Select)
Function
Catalyzes the conversion of gamma-aminobutyrate and L-beta- aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively (PubMed:10407778, PubMed:15528998). Can also convert delta-aminovalerate and beta-alanine (By similarity). {ECO:0000250|UniProtKB:P50554, ECO:0000269|PubMed:10407778, ECO:0000269|PubMed:15528998}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19971
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:
  • GABA aminotransaminase deficiency Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)