Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
SUBMITTER: Kaija Autio
PROVIDER: E-GEOD-40125 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Selkälä Eija M EM Nair Remya R RR Schmitz Werner W Kvist Ari-Pekka AP Baes Myriam M Hiltunen J Kalervo JK Autio Kaija J KJ
Biochimica et biophysica acta 20150804 10
α-Methylacyl-CoA racemase (Amacr) catalyzes the racemization of the 25-methyl group in C27-intermediates in bile acid synthesis and in methyl-branched fatty acids such as pristanic acid, a metabolite derived from phytol. Consequently, patients with Amacr deficiency accumulate C27-bile acid intermediates, pristanic and phytanic acid and display sensorimotor neuropathy, seizures and relapsing encephalopathy. In contrast to humans, Amacr-deficient mice are clinically symptomless on a standard labor ...[more]