Gene: [10p1/PHYH] phytanoyl-CoA hydroxylase; Refsum disease (MIM:266500);
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PAT |
Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF. All patients exhibit accumulation of an unusual branched-chain fatty acid, phytanic acid (3,7,11,15-tetramethylhexadecanoic acid), in blood and tissues. Biochemically, the disease is caused by the deficiency of phytanoyl-CoA hydroxylase (PhyH), a peroxisomal protein catalyzing the first step in the alpha-oxidation of phytanic acid." |
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MUT |
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene (Jansen-1997, Michalik-1997)." |
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REF |
MUT "Jansen GA &: Nature Genet, 17, N2, 190-193, 1997 EXP "Jansen GA &: BBRC, 229, N1, 205-210, 1996 CLO,SEQ,LOC,MUT "Mihalik SJ &: Nature Genet, 17, N2, 185-189, 1997 |
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CLA |
coding, basic |
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LOC |
10 p15.3-12.2 |
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MIM |
MIM: 602026 |
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EZN |
? |
