| Symbol
| FSGS2
|
| Location
| 11q22.1
|
| HGNC id
| 3963
|
| Name
|
focal segmental glomerulosclerosis 2 |
| Corresponding gene
|
TRPC6
|
| Main clinical features
|
proteinuria, nephrotic syndrome with focal segmental glomerulosclerosis, leading to progressive renal failure, onset in the third or fourth decade of life |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| kidney and urinary tract |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
| unknown
| proline-to-glutamine substitution at position 112, occuring in a highly conserved region of the protein, enhancing TRPC6-mediated calcium signals in response to agonists such as angiotensin II
| |
| Remark(s)
|
mutations lead to impaired channel function that initiates a new pathogenic mechanism or decreased ability of the podocyte to adapt to normal physiological challengesthat account for disease development |