homeobox protein HOX-D13; HOX-4I (HOXD13, HOX4I)

Function

• sequence-specific transcription factor
• part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis

Structure

• belongs to the Abd-B homeobox family
• contains 1 homeobox DNA-binding domain

Compartment

nucleus

Pathology

• defects in HOXD13 are the cause of
  • synpolydactyly
  • brachydactyly type D
  • syndactyly type 5
  • brachydactyly-syndactyly syndrome
  • brachydactyly type E

Polymorphism

• poly-Ala region is polymorphic (11 to 15 residues) in the normal population & is expanded to about 22-29 residues in synpolydactyly & syndactyly type 5 patients

More general terms

• homeobox protein

Database

• UniProt: http://www.uniprot.org/uniprot/P35453.html
• OMIM: https://mirror.omim.org/entry/113200
• OMIM: https://mirror.omim.org/entry/113300
• OMIM: https://mirror.omim.org/entry/142989
• OMIM: https://mirror.omim.org/entry/186000
• OMIM: https://mirror.omim.org/entry/186300
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3239