gli-3 proto-oncogene protein

Function

• plays a role in limb & brain development
• implicated in the transduction of SHH signal (putative)

Structure

• belongs to the GLI C2H2-type Zn+2-finger protein family
• contains 5 C2H2-type Zn+2 fingers

Compartment

nucleus

Expression

• expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, & myometrium

Pathology

• defects in GLI3 are the cause of
  • Greig cephalo-poly-syndactyly syndrome
  • Pallister-Hall syndrome
  • type A1/B postaxial polydactyly
  • preaxial polydactyly type-4
  • acrocallosal syndrome

More general terms

• GLI-Krueppel family protein

Database

• UniProt: http://www.uniprot.org/uniprot/P10071.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2737
• OMIM: https://mirror.omim.org/entry/146510
• OMIM: https://mirror.omim.org/entry/165240
• OMIM: https://mirror.omim.org/entry/174200
• OMIM: https://mirror.omim.org/entry/174700
• OMIM: https://mirror.omim.org/entry/175700
• OMIM: https://mirror.omim.org/entry/200990
• OMIM: https://mirror.omim.org/entry/603596
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2737