homeobox protein aristaless-like 4 (ALX4, KIAA1788)

Function

• transcription factor involved in skull & limb development
• role in craniofacial development, skin & hair follicle development
• binds DNA (putative)

Structure

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

Compartment

nucleus

Expression

• expression is likely to be restricted to bone
  • found in parietal bone

Pathology

• defects in ALX4 are the cause of
  • parietal foramina 2
    • a feature of Potocki-Shaffer syndrome
  • frontonasal dysplasia type 2

More general terms

• homeobox protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=60529
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:60529
• OMIM: https://mirror.omim.org/entry/601224
• OMIM: https://mirror.omim.org/entry/605420
• OMIM: https://mirror.omim.org/entry/609597
• OMIM: https://mirror.omim.org/entry/613451
• UniProt: http://www.uniprot.org/uniprot/Q9H161.html