homeobox protein SIX1; sine oculis homeobox homolog 1 (SIX1)

Function

• may be involved in limb tendon & ligament development

Structure

• belongs to the SIX/sine oculis homeobox family
• contains 1 homeobox DNA-binding domain

Compartment

nucleus

Expression

• specifically expressed in skeletal muscle

Pathology

• defects in SIX1 are the cause of
  • deafness autosomal dominant type 23
  • branchiootic syndrome type 3
• defects in SIX1 could be a cause of branchiootorenal syndrome

More general terms

• homeobox protein SIX; sine oculis homeobox homolog (SIX)
• nuclear protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6495
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6495
• OMIM: https://mirror.omim.org/entry/601205
• OMIM: https://mirror.omim.org/entry/605192
• OMIM: https://mirror.omim.org/entry/608389
• UniProt: http://www.uniprot.org/uniprot/Q15475.html