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Article

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

Human mutation - 1 Mar 2004

Jansen Gerbert A, Waterham Hans R, Wanders Ronald J A

Abstract excerpt

Refsum disease has long been known to be an inherited disorder of lipid metabolism characterized by the accumulation of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) caused by an alpha-oxidation deficiency of this branched chain fatty acid in peroxisomes. The mechanism of phytanic acid alpha-oxidation and the enzymes involved had long remained mysterious, but they have been resolved in recent years. This...

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Source

Identifiers

PMID: 14974078
DOI: 10.1002/humu.10315

Genes

PEX7
PHYH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).PMID 14974078Read ↗

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.Semantic proximity Read ↗

Identification of PEX7 as the second gene involved in Refsum disease.Semantic proximity Read ↗

Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.Semantic proximity Read ↗

Structural and mechanistic studies on the peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PhyH).Semantic proximity Read ↗

Phenotype of adult Refsum disease due to a defect in peroxin 7.Semantic proximity Read ↗

Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.Semantic proximity Read ↗

Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.Semantic proximity Read ↗

Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.Semantic proximity Read ↗

Identification of novel pathogenic variants in the PHYH gene and extending the phenotypic range in Refsum disease.Semantic proximity Read ↗

Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene.Semantic proximity Read ↗

PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum DiseaseSemantic proximity Read ↗

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.Semantic proximity Read ↗

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