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Article

GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization.

Proceedings of the National Academy of Sciences of the United States of America - 16 Mar 1999

Shin S H, Kogerman P, Lindström E, Toftgárd R, Biesecker L G

Abstract excerpt

Truncation mutations of the GLI3 zinc finger transcription factor can cause Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome (PHS), and postaxial polydactyly type A (PAP-A). GLI3 is homologous to Drosophila Cubitus interruptus (Ci), which regulates the patched (ptc), gooseberry (gsb), and decapentaplegic (dpp) genes. Ci is sequestered in the cytoplasm and is subject to posttranslational...

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Source

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Identifiers

PMID: 10077605
DOI: 10.1073/pnas.96.6.2880
PMCID: PMC15863

Genes

GLI3
PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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