This image shows NKX2.5 as a homodimer bound to its palindrome in a DNA region, as pale blue spheres. The C-terminus regions, where the homodimer interacts, are not available. NKX2.5 has an N-terminus tail, and 3 α-helices (α1-3, coloured respectively from bright green to dark green).
NKX2.5 is a homeodomain-containing Transcription factor that has functions in heart formation and development (1). It is involved in nuclear translocation, DNA binding and interaction with other Transcription Factors.
Mutations in NKX2.5 cause heart malformation and non-autoimmune conditions (e.g. congenital hypothyroidism) (1). NKX2.5 has a highly conserved Tyr54 in NK2 family proteins. Heterozygous NKX2.5 mutation is related to congenital heart disease, while homozygous mutation has embryonic lethality in murine models (2).
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