3lrq

Structural highlights

Disease

[TRI37_HUMAN] Defects in TRIM37 are the cause of mulibrey nanism (MUL) [MIM:253250]; also known as muscle-liver-brain-eye nanism. MUL is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene. Characteristic features include severe growth failure of prenatal onset and constrictive pericardium with consequent hepatomegaly. In addition, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, typical dysmorphic features and hypoplasia of various endocrine glands causing hormonal deficiency are common.^{[1] [2] [3] [4] [5]}

Function

[TRI37_HUMAN] E3 ubiquitin-protein ligase.^[6]

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

1. ↑ Kallijarvi J, Lahtinen U, Hamalainen R, Lipsanen-Nyman M, Palvimo JJ, Lehesjoki AE. TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase. Exp Cell Res. 2005 Aug 1;308(1):146-55. PMID:15885686 doi:10.1016/j.yexcr.2005.04.001
2. ↑ Avela K, Lipsanen-Nyman M, Idanheimo N, Seemanova E, Rosengren S, Makela TP, Perheentupa J, Chapelle AD, Lehesjoki AE. Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Nat Genet. 2000 Jul;25(3):298-301. PMID:10888877 doi:10.1038/77053
3. ↑ Jagiello P, Hammans C, Wieczorek S, Arning L, Stefanski A, Strehl H, Epplen JT, Gencik M. A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. Hum Mutat. 2003 Jun;21(6):630-5. PMID:12754710 doi:10.1002/humu.10220
4. ↑ Hamalainen RH, Avela K, Lambert JA, Kallijarvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE. Novel mutations in the TRIM37 gene in Mulibrey Nanism. Hum Mutat. 2004 May;23(5):522. PMID:15108285 doi:10.1002/humu.9233
5. ↑ Hamalainen RH, Mowat D, Gabbett MT, O'brien TA, Kallijarvi J, Lehesjoki AE. Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. Clin Genet. 2006 Dec;70(6):473-9. PMID:17100991 doi:10.1111/j.1399-0004.2006.00700.x
6. ↑ Kallijarvi J, Lahtinen U, Hamalainen R, Lipsanen-Nyman M, Palvimo JJ, Lehesjoki AE. TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase. Exp Cell Res. 2005 Aug 1;308(1):146-55. PMID:15885686 doi:10.1016/j.yexcr.2005.04.001