- Source: SEL1L
Protein sel-1 homolog 1 is a protein that in humans is encoded by the SEL1L gene.
Clinical relevance
A mutation in this gene in Finnish Hound dogs have been implicated in cases of cerebellar ataxia. Mutant cells suffer disruptions in their endoplasmic reticula, leading to disease.
References
Further reading
Kata Kunci Pencarian:
- SEL1L
- Finnish Hound
- IDDM11
- List of human protein-coding genes 3
- OS9 (gene)
- Rudolph E. Tanzi
- ERLEC1
- Fibronectin type II domain
