Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.

doi:10.1038/ng0492-16

Back to search

Article

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.

Nature genetics - 1 Apr 1992

Gärtner J, Moser H, Valle D

Abstract excerpt

The peroxisomal membrane protein, with a relative molecular mass of 70,000 (M(r) 70K) (PMP70), is an important component of peroxisomal membranes and an ATP-binding cassette protein. To investigate its possible involvement in Zellweger syndrome (ZS), an inborn error of peroxisome assembly, we clo...

Topics

ATP-Binding Cassette Transporters
Alleles
Amino Acid Sequence
Base Sequence
Chromosome Mapping
Cloning, Molecular
DNA
DNA Mutational Analysis
Female
Humans
Male
Membrane Proteins
Microbodies
Molecular Sequence Data
Pedigree
Zellweger Syndrome

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.