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Emery-Dreifuss Muscular Dystrophy


4a) Emery-Dreifuss Muscular Dystrophy - emerin


Emerin is a nuclear membrane protein of 254 amino-acids and Mr of 34kDa. It is usually absent or greatly reduced in the X-linked form of EDMD. How its absence causes cardiac conduction defects, wasting of specific muscles and joint contractures is not yet known (reviewed in ref. 34).


Abbreviations: wb = western blot if = immunolocalization ip = immunoprecipitation hu = human mo = mouse xe = xenopus lævis ch = chick dm = drosophila fi = fish (raja clavata) CRX = cross-reacting proteins p = preparation m = mapping a = applications ¶ = Also available at Developmental Studies Hybridoma Bank, IOWA(http://dshb.biology.uiowa.edu/)



Name

Clone

Type

Epitope (aa)

Applications

Species
ve (x-ve)

CRX
Cross-reacting proteins

References

Emerin 16 mAbs

MANEM1* ¶ 5D10, 359 G1 89-96 wb, if hu, rb, (xmo) 31, 32
MANEM2 9B2 G1 89-96 wb, if hu, rb, (xmo) 31, 32
MANEM3 ¶ 6D2 G1 152-159 wb, if hu, rb, (xmo) 31, 32
MANEM4 ¶ 6C4 G1 69-77 wb, if hu, (xrb, xmo) 31, 32
MANEM5* ¶ 8A1, 103 G1 112-115 and 150-158 wb, if hu, (xrb, xmo) 31, 32
MANEM6 ¶ 8E9 G1 112-115 wb, if hu, (xrb, xmo) 31, 32
MANEM7 7A9 G1 7-17 wb, if hu, (xrb, xmo) 31, 32
MANEM8 ¶ 7B9, 328 G1 7-17 wb, if hu, (xrb, xmo) 31, 32
MANEM9 9F8 G1 7-17 wb, if hu, (xrb, xmo) 31, 32
MANEM10 1H9 G1 7-17 wb, if hu, (xrb, xmo) 31, 32
MANEM11 7D9 G1 69-77 wb, if hu, (xrb, xmo) 31, 32
MANEM12 5B11 G1 n.d. wb(w) hu, (xrb, xmo) extra bands on blot 31, 32
MANEM13 ¶ 2D6 G1 7-17 wb, if hu, (xrb, xmo) 32
MANEM14 3C3 G1 7-17 wb, if hu, (xrb, xmo) 32
MANEM15 ¶ 8E1 G1 221-228 wb(w), if hu, (xrb, xmo) extra bands on blot 32
MANEM16 7A6 G1 221-228 wb(w), if hu, (xrb, xmo) 32

4b) Emery-Dreifuss Muscular Dystrophy - lamins


The nuclear lamina is made up of lamins A, B1, B2 and C. Lamins A and C are splicing isoforms from the same gene, lamin C being a short form of lamin A. Point mutations in the lamin A/C gene are responsible for the autosomal-dominant form of EDMD. Lamin A/C mutations also cause the related disease, dilated cardiomyopathy with conduction defects, and an apparently unrelated inherited lipodystrophy (Dunnigan-type). Lamin A and C interact with emerin (reviewed in ref. 34).

ANTIBODIES FROM OTHER SOURCES (INC. COMMERCIAL) ARE INCLUDED HERE ENQUIRIES ABOUT AVAILABILITY SHOULD BE ADDRESSED DIRECTLY TO THE OWNERS Inclusion on this site is NOT a guarantee of availability. Our mAb names begin with "MAN".


Name

Clone

Type

Epitope (aa)

Applications

Species
ve (x-ve)

CRX
Cross-reacting proteins

References

MANLAC1 4A7, 273 G1 A C; aa477-485 wb, if hu, rb, mo, chinese hamster 41
MANLAC2 10F8, 176 G2b A C; aa477-485 wb, if hu, rb, 41
MANLAC3 4C10, 84 G1 A C; aa477-485 wb, if hu, rb,mo 41
MANLAC4 9G5, 7(low) G2a A C; aa477-485 wb (weak), if hu, rb, 41
MANLAC5 7F12, 165 G1 A C; aa477-485 wb(weak), if hu, rb, lower Mr on wb(strong) 41
Jol2 ? ? A C aa464-572 wb, if hu, rb, Chemicon
131C3 131C3 N.D. A C aa319-566 wb, if hu, rb, Y. Raymond [37]
1E4 1E4 N.D. A C aa1-250 wb, if hu, rb, F.McKeon [38]
Jol4 ? ? A only; aa572-646 wb, if hu, rb, Chemicon
113A2 113A2 ? A only; last 98aa wb, if hu, rb, Y. Raymond [37]
mab3213 119D5-F1 ? B1 wb, if hu, rb, Chemicon
Ab-1 ? ? B1 wb, if hu, rb, Oncogene Research
NCL-LAM-B2 ? ? B2 wb, if hu, rb, Novocastra
mAb8D1 8D1 ? B1 wb, if hu Vaux [39]
POLYCLONALS
NEWI-A/C n/a rabbit A C (recombinant lamin A) wb, if hu, rb, unpublished
SC-6215 n/a goat A C; N-terminal 18aa peptide wb, if hu, rb, Santa Cruz
SC A-C20 n/a goat A; C-terminal 20aa peptide wb, if hu, rb, Santa Cruz
SC B-C20 n/a goat B; aa565-584 peptide wb, if hu, rb, Santa Cruz

4C) Emery-Dreifuss Muscular Dystrophy - Nesprins


Nesprins 1 and 2 are products of the SYNE1 and SYNE2 genes respectively. Full-length nesprins attach to the nuclear membrane via their C-terminal KASH domain and to the actin cytoskeleton via their N-terminal calponin-homology (CH) domain. Shorter isoforms lack the CH domain, although they retain interaction sites for emerin and lamin A/C. Point mutations in either nesprin can cause autosomal-dominant EDMD (reviewed in ref 53).


Name

Clone

Type

Epitope (aa)

Applications

Species
ve (x-ve)

CRX
Cross-reacting proteins

References

MANNES1A 7A12, 165 G1 n.d wb, if hu,mo,rb,rat 53
MANNES1B 7B2 G1 n.d wb(weak), if hu only 53
MANNES1C 6C10 G1 n.d wb(weak), if hu,mo,rb,rat 53
MANNES1D 8B8 G1 n.d wb(weak), if hu only 53
MANNES1E 8C3, 129 G1 n.d wb, if hu,mo,rb,xrat 53
MANNES1F 9G10 G1 n.d wb(very weak, if hu,mo,rb,rat high background 53
MANNES1G 6G2 G1 n.d wb(very weak),if hu,mo,rb,rat 53
MANNES2A 11A3, 167 G1 a.a RGGL by phage-display wb,if hu 53
MANNES2B 6A8 G2a n.d wb,if hu 53
MANNES2C 12A5, 297 G1 n.d wb, if hu 53
MANNES2D 6H5 G1 n.d wb(weak), if hu 53
MANNES2E 18F7 G1 a.a LL-LAS by phage-display wb(very weak), if hu 200 kD band 53
MANNES2F 11C5 G1 a.a RGGL by phage-display wb, if hu 53
MANNES2G 4B5, 119 G2b a.a ADPR-LL by phage-display wb, if hu 53
MANNES2H 3C4 G1 n.d wb, if hu 53
MANNES2I 4A11 G1 n.d wb,if hu 53
MANNES2J 3H4 G1 n.d wb, if hu 53
MANNES2K 1A11 G1 n.d wb, if hu 53
MANNES2L 17F5 G1 n.d wb, if hu 53
MANNES2M 16H2 G1 n.d wb, if hu 53
N2-DV23-6B4 6B4, 358 G1 a.a NPEAYLKMTT by phage-display wb, if hu 58
N1alpha2-1H2 1H2, 200 G1 a.a VVAEDLSALRMAEDGC if, (xwb) hu 59
N1G-ex130 2F2, 129 G1 a.a SKASEIEYKLGKVNDRC wb, if hu 59
N1G-7D9 7D9, 69 G1 exon 82 a.a QDKLPGSSA by phage-display wb, if hu 59
N1G-6F7 6F7 G1 exon 81-84 wb, if hu 59
N1G-8C8 8C8 G1 exon 81-84 wb, if hu 59
N1G-4C11 4C11 G2b exon 82 a.a EMIDQLQDKLP by phage-display wb, if hu lower Mr bands on wb; high bgd on if 59
N1G-7C8 7C8, 295 G1 exon 84-86 wb, if hu 59
N1G-5A6 5A6 G1 exon 84-86 wb, if hu 59
N1G-9G5 9G5 G1 exon 84 a.a LGLYTILPSELSL by phage-display wb, if hu 59
N1G-6C9 6C9 G1 exon 84/85 a.a LKIRDQIQDK by phage-display wb, if hu 130Kd CRX band on wb 59