ESYT1
Description
The ESYT1 (extended synaptotagmin 1) is a protein-coding gene located on chromosome 12.
Extended synaptotagmin-1 is a protein in humans that is encoded by the ESYT1 gene.
ESYT1 is also known as FAM62A, MBC2.
Associated Diseases
- X-linked endothelial corneal dystrophy
- corneal-cerebellar syndrome
- granular corneal dystrophy type I
- oculodental syndrome, Rutherfurd type
- otodental syndrome
- X-linked corneal dermoid
- amelogenesis imperfecta
- Peters anomaly
- autosomal dominant keratitis
- Thiel-Behnke corneal dystrophy
- macular corneal dystrophy
