HPCA
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | HPCA |
| GeneCards | HPCA |
| Diseases | HPCA |
| wikipedia | HPCA |
| HPCA | |
| gopubmed | HPCA |
| EVS | HPCA |
| HEFalMp | HPCA |
| MyGene2 | HPCA |
| 23andMe | HPCA |
| # SNPs | 3 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs550921485 | 5.7 | 32,893,848 | |
| rs775863165 | 5.7 | 32,889,110 | |
| rs786205675 | 5.7 | 32,889,123 |
The HPCA gene, located on chromosome 1, encoded hippocalcin, a calcium-binding protein that belongs to the neuronal calcium sensor (NCS) family of proteins.Wikipedia
Inherited recessively, mutations in the HPCA gene can lead to dystonia 2 (torsion), also known as DYT2. These mutations include:
