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General description
The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified.
Immunogen
Synthetic peptide directed towards the middle region of human LBR
Physical form
Supplied at 0.5 mg/ml in phosphate-buffered saline, 0.09% sodium azide
Sequence
Synthetic peptide located within the following region: GANSQKNAFRKNPSDPKLAHLKTIHTSTGKNLLVSGWWGFVRHPNYLGDL
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