SHOX

The transcription factor behind Léri-Weill dyschondrosteosis and much of the short stature in Turner syndrome, what it controls at the growth plate, and what acts on it.

SHOX: it sits in PAR1 at the tip of both the X and Y chromosomes and stays active on both, so everyone has two working copies. With one copy, as in SHOX deficiency or Turner syndrome, the bones come out shorter. XYSHOXin PAR1two copiesone copy, as in Turner syndromeX and YShorter with one copyboth copies active

Short stature homeobox, a homeodomain transcription factor encoded in the pseudoautosomal region PAR1. It sits on both X and Y and escapes X-inactivation, so both sexes carry two active copies, and losing one of them is enough to shorten a skeleton.

In this article

  • NPPB and the CNP pathway
  • Compounds

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