STRs database » GLS locus
Gene GLS
Location 5′ UTR in 2q32.2
Reference region chr2:190880872-190880920 (hg38)
chr2:191745598-191745646 (hg19)
chr2:191369982-191370024 (hs1)
Repeat unit GCA
Repeat type Standard
Distribution of repeats in a superpopulation
→ View repeat distributions in gnomAD database
Overview of repeats

The role of tandem repeats in the GLS gene was discovered in three unrelated patients of glutaminase deficiency (GD) disease, carrying either 680, 900 or 1500 CAG repeats in the GLS gene. In the majority of controls, the repeat length varied from 5 to 26 repeats (van Kuilenburg et al., 2019).

→ View STRipy's population-wide repeat data for GLS locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Glutaminase deficiency with impaired intellectual development and progressive ataxia (GD) Paediatric Autosomal recessive 5-26 - ≥680