• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GLUL (HGNC:4341) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glutamate-ammonia ligase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GLNS
Alias symbols
No aliases found
%HI
9.54(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.19(Read more about gnomAD LOEUF score)
Cytoband
1q25.3
Genomic Coordinates
GRCh37/hg19: chr1:182347233-182360925 NCBI Ensembl UCSC
GRCh38/hg38: chr1:182378098-182391790 NCBI Ensembl UCSC
MANE Select Transcript
NM_001033044.4 ENST00000331872.11 (Read more about MANE Select)
Function
Glutamine synthetase that catalyzes the ATP-dependent conversion of glutamate and ammonia to glutamine (PubMed:30158707, PubMed:16267323). Its role depends on tissue localization: in the brain, it regulates the levels of toxic ammonia and converts neurotoxic glutamate to harmless glutamine, whereas in the liver, it is one of the enzymes responsible for the removal of ammonia (By similarity). Essential for proliferation of fetal skin fibroblasts (PubMed:18662667). Independently of its glutamine s... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33972
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/04/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital brain dysgenesis due to glutamine synthetase deficiency Monarch
HI Evidence Comments:
Variants in GLUL have been identified in individuals with congenital glutamine deficiency, an autosomal recessive condition.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)