组氨酸解氨酶（英语：Histidine ammonia-lyase，或称为组氨酸氨裂解酶或组氨酸酶）在人体中是一种由HAL基因编码的酶[1][2]。组氨酸解氨酶将组氨酸转变为氨与尿刊酸。
| 组氨酸解氨酶 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 标识 | |||||||||||||
| 代号 | HAL; HIS; HSTD | ||||||||||||
| 扩展标识 | 遗传学：609457 鼠基因：96010 同源基因：68229 GeneCards: HAL Gene | ||||||||||||
| EC编号 | 4.3.1.3 | ||||||||||||
| |||||||||||||
| 直系同源体 | |||||||||||||
| 物种 | 人类 | 小鼠 | |||||||||||
| Entrez | 3034 | 15109 | |||||||||||
| Ensembl | ENSG00000084110 | ENSMUSG00000020017 | |||||||||||
| UniProt | P42357 | P35492 | |||||||||||
| mRNA序列 | NM_002108 | NM_010401.3 | |||||||||||
| 蛋白序列 | NP_002099 | NP_034531.1 | |||||||||||
| 基因位置 |
Chr 12: 96.37 – 96.39 Mb |
Chr 10: 92.95 – 92.98 Mb | |||||||||||
| PubMed查询 | [1] | [2] | |||||||||||
功能
病理学
编码组氨酸酶的基因的突变与组氨酸血症和尿刊酸尿症两者有关。
深入阅读
- Suchi M, Harada N, Wada Y, Takagi Y. Molecular cloning of a cDNA encoding human histidase.. Biochim. Biophys. Acta. 1993, 1216 (2): 293–5. PMID 7916645.
- Davila S, Froeling FE, Tan A; et al. New genetic associations detected in a host response study to hepatitis B vaccine.. Genes Immun. 2010, 11 (3): 232–8. PMID 20237496. doi:10.1038/gene.2010.1.
- Gerhard DS, Wagner L, Feingold EA; et al. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).. Genome Res. 2004, 14 (10B): 2121–7. PMC 528928
. PMID 15489334. doi:10.1101/gr.2596504. - Eckhart L, Schmidt M, Mildner M; et al. Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid.. J. Dermatol. Sci. 2008, 50 (3): 209–15. PMID 18280705. doi:10.1016/j.jdermsci.2007.12.009.
- Welsh MM, Karagas MR, Applebaum KM; et al. A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene-environment interactions.. Carcinogenesis. 2008, 29 (10): 1950–4. PMID 18641401. doi:10.1093/carcin/bgn160.
- Strausberg RL, Feingold EA, Grouse LH; et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.. Proc. Natl. Acad. Sci. U.S.A. 2002, 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Kawai Y, Moriyama A, Asai K; et al. Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.. Hum. Genet. 2005, 116 (5): 340–6. PMID 15806399. doi:10.1007/s00439-004-1232-5.
- Taylor RG, García-Heras J, Sadler SJ; et al. Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1.. Cytogenet. Cell Genet. 1991, 56 (3-4): 178–81. PMID 2055114.
- Alemán G, Ortíz V, Langley E; et al. Regulation by glucagon of the rat histidase gene promoter in cultured rat hepatocytes and human hepatoblastoma cells.. Am. J. Physiol. Endocrinol. Metab. 2005, 289 (1): E172–9. PMID 15741241. doi:10.1152/ajpendo.00584.2004.
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