Literature summary for 3.6.4.7 extracted from

Tamura, S.; Matsumoto, N.; Imamura, A.; Shimozawa, N.; Suzuki, Y.; Kondo, N.; Fujiki, Y.
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction (2001), Biochem. J., 357, 417-426.

Search for more literature for 3.6.4.7

Application

Application	Comment	Organism
medicine	phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G843D	most frequently identified mutation in patients with infantile Refsum disease, protein is rapidly degraded in vivo at 37°C, interaction with Pex6 protein at 50% of wild-type level	Homo sapiens
L664P	mutation identified in patients with Zellweger syndrome, stable protein, but verly low interaction with Pex6 protein	Homo sapiens
additional information	deletion mutant of residues 634-690, identified in patients with Zellweger syndrome, stable protein, but verly low interaction with Pex6 protein	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
Pex1	-	Homo sapiens

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Release 2023.1 (January 2023)