receptor
Receptor may refer to:
* Sensory receptor, in physiology, any neurite structure that, on receiving environmental stimuli, produces an informative nerve impulse
*Receptor (biochemistry), in biochemistry, a protein molecule that receives and respond ...
associated with
Refsum's disease
Refsum disease is an autosome, autosomal dominance (genetics), recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Ber ...
and
rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (''rhizomelia''), seizures, recurrent respiratory tract infections and congenital cataracts.
The cause is a genetic mutat ...
type 1.
See also
*
Peroxin
Peroxins (or peroxisomal/peroxisome biogenesis factors) represent several protein families found in peroxisomes. Deficiencies are associated with several peroxisomal disorders. Peroxins serve several functions including the recognition of c ...