HHAT explained
| hedgehog acyltransferase |
| Hgncid: | 18270 |
| Symbol: | HHAT |
| Altsymbols: | FLJ10724, MART-2, MART2, GUP2 |
| Entrezgene: | 55733 |
| Omim: | 605743 |
| Refseq: | NM_018194 |
| Uniprot: | Q5VTY9 |
| Ecnumber: | 2.3.1.- |
| Chromosome: | 1 |
| Arm: | q |
| Band: | 32 |
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]
Notes and References
- Kawakami Y, Wang X, Shofuda T, Sumimoto H, Tupesis J, Fitzgerald E, Rosenberg S . 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 . February 2001 . 11160356 . 10.4049/jimmunol.166.4.2871. free .
- Web site: OMIM Entry - * 605743 - HEDGEHOG ACYLTRANSFERASE; HHAT. www.omim.org. en-us. 2017-02-20.
- Chamoun Z, Mann RK, Nellen D, von Kessler DP, Bellotto M, Beachy PA, Basler K . Skinny hedgehog, an acyltransferase required for palmitoylation and activity of the hedgehog signal . Science . 293 . 5537 . 2080–4 . September 2001 . 11486055 . 10.1126/science.1064437 . 2001Sci...293.2080C . 39594965 . free .
