GLUL |
- 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
- 0.38(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
ClinGen Curation ID:
CCID:007222
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)