Beta polipeptid luteinizirajućeg hormona
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Beta polipeptid luteinizirajućeg hormona (lutropinska podjedinica beta) je protein koji je kod ljudi kodiran LHB genom.[1][2]
| Beta polipeptid luteinizirajućeg hormona | |||||||||||
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| Dostupne strukture | |||||||||||
| 1M92 | |||||||||||
| Identifikatori | |||||||||||
| Simboli | LHB; CGB4; LSH-B; hLHB | ||||||||||
| Vanjski ID | OMIM: 152780 MGI: 96782 HomoloGene: 81806 GeneCards: LHB Gene | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 3972 | 16866 | |||||||||
| Ensembl | ENSG00000104826 | ENSMUSG00000038194 | |||||||||
| UniProt | P01229 | Q3UUG9 | |||||||||
| RefSeq (mRNA) | NM_000894.2 | NM_008497.2 | |||||||||
| RefSeq (protein) | NP_000885.1 | NP_032523.2 | |||||||||
| Lokacija (UCSC) | Chr 19: 49.52 - 49.52 Mb | Chr 7: 45.42 - 45.42 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
Gen
urediGeni beta lanaca horionskih gonadotropina i luteinizirajućeg hormona su dodirni na hromozomu 19q13.3.[2] Kod konja je ova podjedinica kodirana istim genom kao beta podjedinica horionskog gonadatropina.[3]
Funkcija
urediOvaj gen je član glikoproteinske familije hormonskih beta lanaca. On kodira beta podjedinicu luteinizirajućeg hormona (LH). Glikoproteinski hormoni su heterodimeri koji se sastoje od zajedničke alfa podjedinice i jedinstvene beta podjedinice (ovog proteina) koja im daje biološku specifičnost. LH je izražen u hipofizi. On promoviše spermatogenezu i ovulaciju putem stimulacije testisa i jajnika da sintetišu steroide.[2]
Klinički značaj
urediMutacije ovog gena su vezane za hipogonadizam koji je karakterisan neplodnošću i pseudohermafroditizmom.[2]
Reference
uredi- ↑ Sairam MR, Li CH (Feb 1976). „Human pituitary lutropin. Isolation, properties, and the complete amino acid sequence of the beta-subunit”. Biochim Biophys Acta 412 (1): 70–81. PMID 1191677.
- ↑ 2,0 2,1 2,2 2,3 „Entrez Gene: LHB luteinizing hormone beta polypeptide”.
- ↑ Sherman GB, Wolfe MW, Farmerie TA, Clay CM, Threadgill DS, Sharp DC, Nilson JH (June 1992). „A single gene encodes the beta-subunits of equine luteinizing hormone and chorionic gonadotropin”. Mol. Endocrinol. 6 (6): 951–9. DOI:10.1210/me.6.6.951. PMID 1379674.
Literatura
uredi- Keutmann HT, Hua QX, Weiss MA (1992). „Structure of a receptor-binding fragment from human luteinizing hormone beta-subunit determined by [1H]- and [15N]nuclear magnetic resonance spectroscopy”. Mol. Endocrinol. 6 (6): 904–13. DOI:10.1210/me.6.6.904. PMID 1495492.
- Weiss J, Axelrod L, Whitcomb RW, et al. (1992). „Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone”. N. Engl. J. Med. 326 (3): 179–83. DOI:10.1056/NEJM199201163260306. PMID 1727547.
- Weisshaar G, Hiyama J, Renwick AG, Nimtz M (1991). „NMR investigations of the N-linked oligosaccharides at individual glycosylation sites of human lutropin”. Eur. J. Biochem. 195 (1): 257–68. DOI:10.1111/j.1432-1033.1991.tb15702.x. PMID 1991473.
- Jameson JL, Lindell CM, Habener JF (1986). „Evolution of different transcriptional start sites in the human luteinizing hormone and chorionic gonadotropin beta-subunit genes”. DNA 5 (3): 227–34. DOI:10.1089/dna.1986.5.227. PMID 2424697.
- Keutmann HT, Charlesworth MC, Mason KA, et al. (1987). „A receptor-binding region in human choriogonadotropin/lutropin beta subunit”. Proc. Natl. Acad. Sci. U.S.A. 84 (7): 2038–42. DOI:10.1073/pnas.84.7.2038. PMC 304579. PMID 3470775.
- Shome B, Parlow AF (1973). „The primary structure of the hormone-specific, beta subunit of human pituitary luteinizing hormone (hLH)”. J. Clin. Endocrinol. Metab. 36 (3): 618–21. DOI:10.1210/jcem-36-3-618. PMID 4685398.
- Closset J, Hennen G, Lequin RM (1973). „Human luteinizing hormone. The amino acid sequence of the subunit”. FEBS Lett. 29 (2): 97–100. DOI:10.1016/0014-5793(73)80534-4. PMID 4719207.
- Talmadge K, Vamvakopoulos NC, Fiddes JC (1984). „Evolution of the genes for the beta subunits of human chorionic gonadotropin and luteinizing hormone”. Nature 307 (5946): 37–40. DOI:10.1038/307037a0. PMID 6690982.
- Beitins IZ, Axelrod L, Ostrea T, et al. (1981). „Hypogonadism in a male with an immunologically active, biologically inactive luteinizing hormone: characterization of the abnormal hormone”. J. Clin. Endocrinol. Metab. 52 (6): 1143–9. DOI:10.1210/jcem-52-6-1143. PMID 6785294.
- Berger P, Kranewitter W, Madersbacher S, et al. (1994). „Eutopic production of human chorionic gonadotropin beta (hCG beta) and luteinizing hormone beta (hLH beta) in the human testis”. FEBS Lett. 343 (3): 229–33. DOI:10.1016/0014-5793(94)80561-X. PMID 7513655.
- Keutmann HT, Rubin DA (1993). „A subunit interaction site in human luteinizing hormone: identification by photoaffinity cross-linking”. Endocrinology 132 (3): 1305–12. DOI:10.1210/en.132.3.1305. PMID 7679977.
- Herrlich A, Kühn B, Grosse R, et al. (1996). „Involvement of Gs and Gi proteins in dual coupling of the luteinizing hormone receptor to adenylyl cyclase and phospholipase C”. J. Biol. Chem. 271 (28): 16764–72. DOI:10.1074/jbc.271.28.16764. PMID 8663226.
- Muyan M, Furuhashi M, Sugahara T, Boime I (1997). „The carboxy-terminal region of the beta-subunits of luteinizing hormone and chorionic gonadotropin differentially influence secretion and assembly of the heterodimers”. Mol. Endocrinol. 10 (12): 1678–87. DOI:10.1210/me.10.12.1678. PMID 8961276.
- Roy AC, Liao WX, Chen Y, et al. (1997). „Identification of seven novel mutations in LH beta-subunit gene by SSCP”. Mol. Cell. Biochem. 165 (2): 151–3. PMID 8979264.
- Liao WX, Roy AC, Chan C, et al. (1998). „A new molecular variant of luteinizing hormone associated with female infertility”. Fertil. Steril. 69 (1): 102–6. DOI:10.1016/S0015-0282(97)00445-7. PMID 9457942.
- O'Connor JF, Kovalevskaya G, Birken S, et al. (1998). „The expression of the urinary forms of human luteinizing hormone beta fragment in various populations as assessed by a specific immunoradiometric assay”. Hum. Reprod. 13 (4): 826–35. DOI:10.1093/humrep/13.4.826. PMID 9619532.
- Takahashi K, Kurioka H, Ozaki T, et al. (1999). „Increased prevalence of luteinizing hormone beta-subunit variant in Japanese infertility patients”. Hum. Reprod. 13 (12): 3338–44. DOI:10.1093/humrep/13.12.3338. PMID 9886510.
- Elter K, Erel CT, Cine N, et al. (1999). „Role of the mutations Trp8 => Arg and Ile15 => Thr of the human luteinizing hormone beta-subunit in women with polycystic ovary syndrome”. Fertil. Steril. 71 (3): 425–30. DOI:10.1016/S0015-0282(98)00491-9. PMID 10065776.
- Jiang M, Pakarinen P, Zhang FP, et al. (1999). „A common polymorphic allele of the human luteinizing hormone beta-subunit gene: additional mutations and differential function of the promoter sequence”. Hum. Mol. Genet. 8 (11): 2037–46. DOI:10.1093/hmg/8.11.2037. PMID 10484773.