RHPN1
Description
The RHPN1 (rhophilin Rho GTPase binding protein 1) is a protein-coding gene located on chromosome 8.
Rhophilin-1 is a protein that in humans is encoded by the RHPN1 gene.
Rhophilin-1 lacks enzymatic activity but may act as a target for Rho. Upon Rho binding, it can interact with cytoskeletal components or relay a Rho signal to other molecules.
RHPN1 is also known as ODF5, RHOPHILIN, RHPN.
Associated Diseases
- familial idiopathic steroid-resistant nephrotic syndrome
- proteinuria, chronic benign
- uridine-cytidineuria
- isolated sedoheptulokinase deficiency
- focal segmental glomerulosclerosis 7
- nail-patella-like renal disease
- pentosuria
- nephrotic syndrome 16
- congenital nephrotic syndrome, Finnish type
- lipoprotein glomerulopathy
- Dent disease
- focal segmental glomerulosclerosis 5
- familial steroid-resistant nephrotic syndrome with sensorineural deafness
- retinoblastoma
- nephrotic syndrome, type 22
- paroxysmal nocturnal hemoglobinuria 1
- hyperprolinemia type 1
