HHAT

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hedgehog acyltransferase
Identifiers
SymbolHHAT
Alt. symbolsFLJ10724, MART-2, MART2, GUP2
Entrez55733
HUGO18270
OMIM605743
RefSeqNM_018194
UniProtQ5VTY9
Other data
EC number2.3.1.-
LocusChr. 1 q32

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

  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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