GMPPA Chromosome 2
GDP-mannose pyrophosphorylase A
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What This Gene Does
This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]
Associated Conditions (6)
Alacrima
achalasia
and intellectual disability syndrome
Inborn genetic diseases
GMPPA-related disorder
Chromosomal instability with tissue-specific radiosensitivity
Key Variants
RS112693024
Conflicting classifications of pathogenicity
Alacrima, achalasia, and intellectual disability syndrome
Health Risk
RS36029384
Conflicting classifications of pathogenicity
Alacrima, achalasia, and intellectual disability syndrome
Health Risk
RS397518462
Conflicting classifications of pathogenicity
Alacrima, achalasia, and intellectual disability syndrome
Health Risk
RS773715630
Conflicting classifications of pathogenicity
Alacrima, achalasia, and intellectual disability syndrome
Health Risk
RS1001973468
Likely pathogenic
Health Risk
RS2125629897
Likely pathogenic
Alacrima, achalasia, and intellectual disability syndrome
Health Risk
RS747476158
Likely pathogenic
GMPPA-related disorder, GMPPA-related disorder
Health Risk
RS1455684210
Pathogenic
Health Risk
RS1553624347
Pathogenic
Alacrima, achalasia, and intellectual disability syndrome
Health Risk
RS1694593071
Pathogenic
Alacrima, achalasia, and intellectual disability syndrome
Health Risk
RS2125639654
Pathogenic
Alacrima, achalasia, and intellectual disability syndrome
Health Risk
RS2546060637
Pathogenic
Alacrima, achalasia, and intellectual disability syndrome
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112693024 | Health Risk | Conflicting classifications of pathogenicity | Alacrima, achalasia, and intellectual disability syndrome |
| RS36029384 | Health Risk | Conflicting classifications of pathogenicity | Alacrima, achalasia, and intellectual disability syndrome |
| RS397518462 | Health Risk | Conflicting classifications of pathogenicity | Alacrima, achalasia, and intellectual disability syndrome |
| RS773715630 | Health Risk | Conflicting classifications of pathogenicity | Alacrima, achalasia, and intellectual disability syndrome |
| RS1001973468 | Health Risk | Likely pathogenic | — |
| RS2125629897 | Health Risk | Likely pathogenic | Alacrima, achalasia, and intellectual disability syndrome |
| RS747476158 | Health Risk | Likely pathogenic | GMPPA-related disorder, GMPPA-related disorder |
| RS1455684210 | Health Risk | Pathogenic | — |
| RS1553624347 | Health Risk | Pathogenic | Alacrima, achalasia, and intellectual disability syndrome |
| RS1694593071 | Health Risk | Pathogenic | Alacrima, achalasia, and intellectual disability syndrome |
| RS2125639654 | Health Risk | Pathogenic | Alacrima, achalasia, and intellectual disability syndrome |
| RS2546060637 | Health Risk | Pathogenic | Alacrima, achalasia, and intellectual disability syndrome |
| RS397518460 | Health Risk | Pathogenic | Alacrima, achalasia, and intellectual disability syndrome |
| RS397518461 | Health Risk | Pathogenic | Alacrima, achalasia, and intellectual disability syndrome |
| RS886037654 | Health Risk | Pathogenic | Alacrima, achalasia, and intellectual disability syndrome |
| RS372628288 | Health Risk | Pathogenic/Likely pathogenic | GMPPA-related disorder, Alacrima, achalasia |
| RS745806762 | Health Risk | Pathogenic/Likely pathogenic | Alacrima, achalasia, and intellectual disability syndrome |
| RS770582052 | Health Risk | Pathogenic/Likely pathogenic | Alacrima, achalasia, and intellectual disability syndrome |