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Article

Mutations in the Rab33b protein that lead to the skeletal disease Smith-McCort dysplasia result in unstable proteins and altered autophagy function.

European journal of cell biology - 1 Mar 2026

Parisi Sofia R, Harte Danielle Z, Simpson Jeremy C

Abstract excerpt

The human skeletal disease Smith McCort dysplasia is known to be caused by mutations in the RAB33B gene. Despite there being detailed genetic and medical studies about the patients carrying these mutated genes, there is a paucity of information about these mutations at the molecular and cellular level. The RAB33B gene encodes the small GTP binding protein Rab33b, which primarily localises to the Golgi apparatus...

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Identifiers

PMID: 41506134
DOI: 10.1016/j.ejcb.2025.151528

Genes

RAB33B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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