Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.

doi:10.1093/hmg/ddt378

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Article

Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.

Human molecular genetics - 20 Dec 2013

Tornieri Karine, Zlatic Stephanie A, Mullin Ariana P, Werner Erica, Harrison Robert, L'hernault Steven W, Faundez Victor

Abstract excerpt

Mutations in Vps33 isoforms cause pigment dilution in mice (Vps33a, buff) and Drosophila (car) and the neurogenic arthrogryposis, renal dysfunction and cholestasis syndrome in humans (ARC1, VPS33B). The later disease is also caused by mutations in VIPAS39, (Vps33b interacting protein, apical-basolateral polarity regulator, SPE-39 homolog; ARC2), a protein that interacts with the HOmotypic fusion and Protein...

Topics

Animals
Arthrogryposis
Carrier Proteins
Cholestasis
Endosomes
HEK293 Cells
Humans
Intracellular Signaling Peptides and Proteins
Lysosomes
Membrane Proteins
Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nuclear Proteins

Protein Transport

Renal Insufficiency

Two-Hybrid System Techniques

Vesicular Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 23918659
DOI: 10.1093/hmg/ddt378
PMCID: PMC3842178

Genes

VIPAS39
ARC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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