Peroxin-7
Encyclopedia
Peroxin-7 is a receptor
associated with Refsum's disease
and rhizomelic chondrodysplasia punctata
type 1.
Receptor (biochemistry)
In biochemistry, a receptor is a molecule found on the surface of a cell, which receives specific chemical signals from neighbouring cells or the wider environment within an organism...
associated with Refsum's disease
Refsum's disease
Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acid oxidase deficiency and phytanic acid storage disease, is an autosomal recessive neurological disease that results from the over-accumulation of phytanic acid in cells and tissues...
and rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones , seizures, recurrent respiratory tract infections, and congential cataracts.-Types:...
type 1.