Paired box protein
From Proteopedia
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3D Structures of paired box protein
Updated on 14-June-2016
FunctionPaired 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. • PAX-5 is associated with B-cell differentiation.
DiseaseMutations 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. RelevanceStructural highlights
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Updated on 14-June-2016
This page was last modified 07:14, 14 June 2016.