INPP1
Description
The INPP1 (inositol polyphosphate-1-phosphatase) is a protein-coding gene located on chromosome 2.
The INPP1 gene in humans encodes the enzyme inositol polyphosphate-1-phosphatase, which is a key player in phosphatidylinositol signaling pathways. This enzyme specifically removes the phosphate group at position 1 from inositol 1,4-bisphosphate and inositol 1,3,4-trisphosphate.
INPP1 is also known as -.
Associated Diseases
- Lisch epithelial corneal dystrophy
- X-linked endothelial corneal dystrophy
- X-linked corneal dermoid
- autosomal dominant keratitis
- Schnyder corneal dystrophy
- lattice corneal dystrophy type I
- granular corneal dystrophy type I
- corneal dystrophy, punctiform and polychromatic pre-descemet
- immunodeficiency 28
- isolated ectopia lentis
