GMPPB Chromosome 3
GDP-mannose pyrophosphorylase B
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What This Gene Does
This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
Associated Conditions (15)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A14
Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy
Inborn genetic diseases
GMPPB-related disorder
Myopathy caused by variation in GMPPB
Abnormality of the musculature
Elevated circulating creatine kinase concentration
Acute rhabdomyolysis
Muscular dystrophy-dystroglycanopathy
Autosomal recessive GMPPB-related disorders
Limb-girdle muscular dystrophy
Key Variants
RS1230808770
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS142908436
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS145535498
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS147966522
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS1575297292
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS184127567
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS371188899
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS534685803
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS559784211
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS746357591
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS747845961
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
RS749730219
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS397509426 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS763971677 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS769459081 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS886039382 | Health Risk | Pathogenic | — |
| RS141588721 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS142336618 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 |
| RS145564018 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS1553691918 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS199922550 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy-dystroglycanopathy, Inborn genetic diseases |
| RS202013297 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS202160208 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS2080426663 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS397509422 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS397509425 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14, Autosomal recessive limb-girdle muscular dystrophy type 2T |
| RS761714818 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |