GLI1 GLI family zinc finger 1

Gene ID: 2735, updated on 17-Sep-2024
Gene type: protein coding
Also known as: GLI; PPD1; PAPA8

Summary

This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Polydactyly, postaxial, type A8 MedGen: C4748277OMIM: 618123GeneReviews: Not available	See labs
Preaxial hand polydactyly MedGen: C1395852OMIM: 174400GeneReviews: Not available	See labs

Genomic context

Location:: 12q13.3

Sequence:: Chromosome: 12; NC_000012.12 (57459785..57472268)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GLI1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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