lamins
Lamins constitute a family of polypeptides composing the proteinaceous layer apposed to the inner nuclear membrane. In mammals, 3 lamins, A (LMNA), B (LMNB), and C (encoded by LMNA), have been described, with molecular weights ranging from 60,000 to 78,000. Lamins A and C but not lamin B have close sequence homology. Lamins can be classified with the intermediate filament (IF) polypeptides.
Members
| LMNA | lamin-A | MIM.150330 |
| LMNB1 | lamin-B1 | MIM.150340 |
| LMNB2 | lamin-B2 | MIM.150341 |
| LMNC | lamin-C | MIM.150330 |
| LMNA | lamin-A | autosomal dominant Emery-Dreifuss muscular dystrophy | MIM.181350 |
| LMNA | lamin-A | autosomal dominant dilated cardiomyopathy and conduction system disease | MIM.115200 |
| LMNA | lamin-A | partial lipodystrophy type 2 | MIM.151660 |
| LMNA | lamin-A | mandibuloacral dysplasia with lipodystrophy | MIM.248370 |
| LMNA | lamin-A | limb-girdle muscular dystrophy type 1B | MIM.159001 |
| LMNA | lamin-A | axonal Charcot-Marie-Tooth Disease type 2B1 | MIM.605588 |
| LMNA | lamin-A | Hutchinson-Gilford progeria syndrome | MIM.176670 |
| LMNA | lamin-A | LDHCP syndrome | MIM.608056 |
| LMNA | lamin-A | variant in obesity-related traits | |
| LMNB1 | lamin-B1 | no disease | MIM.150340 |
| LMNB2 | lamin-B2 | no disease | MIM.150341 |
| LMNC | lamin-C | no disease | MIM.150330 |
See also
progeria
References
Broers JL, Hutchison CJ, Ramaekers FC. Laminopathies. J Pathol. 2004 Nov;204(4):478-88. PMID: #15495262#
Worman HJ, Courvalin JC. The nuclear lamina and inherited disease. Trends Cell Biol. 2002 Dec ;12(12):591-8. PMID : #12495848#
Burke B, Stewart CL. Life at the edge : the nuclear envelope and human disease. Nat Rev Mol Cell Biol. 2002 Aug ;3(8):575-85. PMID : 12154369
Mounkes LC, Stewart CL. Aging and nuclear organization: lamins and progeria. Curr Opin Cell Biol. 2004 Jun;16(3):322-7. PMID: #15145358#
Herrmann H, Foisner R. Intermediate filaments: novel assembly models and exciting new functions for nuclear lamins. Cell Mol Life Sci. 2003 Aug;60(8):1607-12. PMID: #14504651#
Burke B, Stewart CL. Life at the edge: the nuclear envelope and human disease. Nat Rev Mol Cell Biol. 2002 Aug;3(8):575-85. PMID: 12154369
Moir RD, Spann TP. The structure and function of nuclear lamins: implications for disease. Cell Mol Life Sci. 2001 Nov;58(12-13):1748-57. PMID: #11766876#
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