GBA2 Chromosome 9
Glucosylceramidase beta 2
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What This Gene Does
This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Glycoside hydrolase family|Glucosylceramidases"
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000070610
Associated Conditions (9)
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases
GBA2-related disorder
Hereditary spastic paraplegia 46
Uterine corpus endometrial carcinoma
Hereditary spastic paraplegia 5A
Neurodevelopmental disorder
CEP290-related ciliopathy
Key Variants
RS140988229
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS141800351
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS142602400
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS142607078
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS142621039
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, GBA2-related disorder
Health Risk
RS142883889
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 46, Hereditary spastic paraplegia
Health Risk
RS143456960
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS145802357
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 46, Inborn genetic diseases
Health Risk
RS147443644
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS148315388
Conflicting classifications of pathogenicity
Spastic paraplegia, GBA2-related disorder, Spastic paraplegia
Health Risk
RS150861266
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS1827116262
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1588023668 | Health Risk | Pathogenic | Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46 |
| RS1826516488 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2131945469 | Health Risk | Pathogenic | Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46 |
| RS2131947494 | Health Risk | Pathogenic | Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46 |
| RS2131951562 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2490837980 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2490864574 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2490887236 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS398123013 | Health Risk | Pathogenic | Hereditary spastic paraplegia 46, Spastic paraplegia, Hereditary spastic paraplegia 46 |
| RS398123014 | Health Risk | Pathogenic | Hereditary spastic paraplegia 46, Spastic paraplegia, Hereditary spastic paraplegia 46 |
| RS746551074 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS749211700 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS756503362 | Health Risk | Pathogenic | — |
| RS759632589 | Health Risk | Pathogenic | Hereditary spastic paraplegia 46, Spastic paraplegia, Hereditary spastic paraplegia 46 |
| RS774411642 | Health Risk | Pathogenic | — |
| RS779331792 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS398123012 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 46, Hereditary spastic paraplegia, Hereditary spastic paraplegia 46 |
| RS398123015 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 46, Hereditary spastic paraplegia, Hereditary spastic paraplegia 46 |