Disease : Contiguous ABCD1/DXS1375E deletion syndrome
Name :
Contiguous ABCD1/DXS1375E deletion syndrome
Description :
Symptoms
: profound neonatal hypotonia, subsequent failure to thrive, and cholestatic liver disease.
Gene(s) :
ABCD1
Localization(s) :
Peroxisomal membrane
Functional category(ies) :
ABC transporters
Di- trihydroxycholestanoic acid oxidation/Bile acid synthesis
Fatty acid oxidation
Fatty acid synthesis/PUFAS synthesis
Lipid metabolism
Peroxisomal membrane proteins (PMP)
Straight chain fatty acids oxidation
Links of Interest:
OMIM