ZFYVE26
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | ZFYVE26 |
| GeneCards | ZFYVE26 |
| Diseases | ZFYVE26 |
| wikipedia | ZFYVE26 |
| ZFYVE26 | |
| gopubmed | ZFYVE26 |
| EVS | ZFYVE26 |
| HEFalMp | ZFYVE26 |
| MyGene2 | ZFYVE26 |
| 23andMe | ZFYVE26 |
| # SNPs | 17 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs104894476 | 0 | 67,729,220 | |
| rs1057518016 | 0 | 67,797,750 | |
| rs118204049 | 3 | 67,782,840 | |
| rs118204050 | 3 | 67,802,241 | |
| rs12891047 | 0 | 67,776,358 | |
| rs28940313 | 0 | 67,729,209 | |
| rs370828455 | 3 | 67,782,971 | |
| rs370837940 | 3 | 67,754,158 | |
| rs386834261 | 0 | 67,729,338 | |
| rs387907057 | 0 | 67,772,109 | |
| rs527236099 | 0 | 67,729,308 | |
| rs752283089 | 0 | 67,783,217 | |
| rs768176054 | 0 | 67,793,711 | |
| rs775709247 | 0 | 67,802,285 | |
| rs869312914 | 0 | 67,752,520 | |
| rs878855011 | 3 | 67,785,209 | |
| rs878855013 | 3 | 67,769,731 |
The ZFYVE26 gene, located on chromosome 14, encodes a protein called spastizin. When first described, this gene was named KIAA0321. Eight (somewhat overlapping) roles have been described for spastizin, according to a 2017 literature summary.[1]
Recessively inherited mutations in the ZFYVE26 gene may lead to a motor neuron disease considered to be form of spastic paraplegia, type 15, and thus known as SPG15.
The UK-based "Save Our Maddi" campaign seeks to raise awareness of SPG15 and to encourage the development of gene therapies to treat the disease.
