DIATHEVA - Biomanufacturing of innovative diagnostics and reagents

ZMPSTE24 gene amplification kit for direct sequencing

PCR mixes for the amplification of human ZMPSTE24 gene exons with modified primers: amplicons can be used for sequencing reactions with M13 universal primers.


The kit is composed of 9 PCR mixes containing all reagents and primers necessary for the amplification of a specific ZMPSTE24 gene region that comprises: one exon and its flanking regions, the entire 5' UTR, partial 3'UTR, or two exons and the intron included


PCR primers are composed of a specific ZMPSTE24 target sequence with flanking priming sites for M13 Forward or Reverse primers for subsequent sequencing reaction. 


Diatheva is a member of the "NETWORK ITALIANO LAMINOPATIE" , which is made up of the main italian centers strongly involved in clinical or molecular diagnosis and biomedical research on diseases related to defects of the nuclear lamina.


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Info

Zmpste24 (also called FACE-1) is a metalloproteinase involved in the maturation of lamin A, an essential component of the nuclear envelope. Both ZMPSTE24- and LMNA-deficient mice exhibit profound nuclear architecture abnormalities and multiple histopathological defects that determine an accelerated ageing process. Similarly, diverse human progeroid syndromes are caused by mutations in ZMPSTE24 or LMNA genes. In particular, defects in ZMPSTE24 gene are known to cause: mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] and lethal tight skin contracture syndrome [MIM:275210], also called restrictive dermopathy (RD).

 

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