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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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HHAT

Introduction

Hedgehog acyltransferase (HHAT), also called skinny hedgehog homology in humans, is a human gene.[1][2]

The HHAT gene encodes an enzyme that catalyzes N-terminal palmitoylation of sonic hedgehog. Mutations in HHAT produce a phenotype that is similar to loss of hedgehog function. Finally the HHAT protein shares a short but significant sequence similarity to membrane-bound O-acyltransferases.[3]

References

References

  1. ↑ Kawakami Y, Wang X, Shofuda T, Sumimoto H, Tupesis J, Fitzgerald E, Rosenberg S (February 2001). “Isolation of a new melanoma antigen, MART-2, containing a mutated epitope recognized by autologous tumor-infiltrating T lymphocytes”. J. Immunol. 166 (4): 2871–7. doi:10.4049/jimmunol.166.4.2871. PMID 11160356.
  2. ↑ “OMIM Entry – * 605743 – HEDGEHOG ACYLTRANSFERASE; HHAT”. www.omim.org. Retrieved 2017-02-20.
  3. ↑ Chamoun Z, Mann RK, Nellen D, von Kessler DP, Bellotto M, Beachy PA, Basler K (September 2001). “Skinny hedgehog, an acyltransferase required for palmitoylation and activity of the hedgehog signal”. Science. 293 (5537): 2080–4. doi:10.1126/science.1064437. PMID 11486055.
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