Paired box protein: Difference between revisions

From Proteopedia
Jump to navigationJump to search
Michal Harel (talk | contribs)
No edit summary
Michal Harel (talk | contribs)
No edit summary
Line 5: Line 5:
'''Paired box protein''' (PAX) are transcription factors which contain paired box domain and a paired-type homeodomain (60 amino acid helix-turn-helix).
'''Paired box protein''' (PAX) are transcription factors which contain paired box domain and a paired-type homeodomain (60 amino acid helix-turn-helix).


• '''PAX-6''' contain 2 DNA-binding domains.  It is a regulatory factor in eye and brain development.  Mutations in PAX-6 are associated with aniridia and Peter’s anomaly.<br />
• '''PAX-6''' contain 2 DNA-binding domains.  It is a regulatory factor in eye and brain development.  <br />
• '''PAX-5''' is associated with B-cell differentiation.<br />
• '''PAX-5''' is associated with B-cell differentiation.<br />
• '''PAX-3''' mutations are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma.<br />
• '''PAX-3''' regulates cell fate in C. elegans<ref>PMID:26953187</ref><br />
• '''PAX-8''' is associated with thyroid follicular cell development and expression of thyroid-specific genes.<br />
• '''PAX-8''' is associated with thyroid follicular cell development and expression of thyroid-specific genes.<br />




== Disease ==
== Disease ==
Mutations in PAX-6 are associated with aniridia and Peter’s anomaly.  Mutations in PAX-3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma.


== Relevance ==
== Relevance ==