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CCM-2

CAT: 0209-300-055Size: 20 µgDry Ice: NoHazardous: No
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CAT#:0209-300-055Size:20 µg
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Description
Cerebral cavernous malformations (CCMs) are sporadically acquired or inherited vascular lesions of the central nervous system consisting of clusters of dilated thin-walled blood vessels that predispose individuals to seizures and stroke. Familial CCM is caused by mutations in KRIT1 (CCM1) or in malcavernin (CCM2) . The roles of the CCM proteins in the pathogenesis of the disorder remain largely unknown. It was shown that the CCM1 gene product, KRIT1, interacts with the CCM2 gene product, malcavernin. Analogous to the established interactions of CCM1 and beta1 integrin with ICAP1, the CCM1/CCM2 association is dependent upon the phosphotyrosine binding (PTB) domain of CCM2. A familial CCM2 missense mutation abrogates the CCM1/CCM2 interaction, suggesting that loss of this interaction may be critical in CCM pathogenesis. CCM2 and ICAP1 bound to CCM1 via their respective PTB domains differentially influence the subcellular localization of CCM1. The data indicate that the genetic heterogeneity observed in familial CCM may reflect mutation of different molecular members of a coordinated signaling complex. The CCM-2 is fused to a N-terminal His-tag (6x His) .
Synonyms
CCM-2; malcavernin; cerebral cavernous malformation 2; OSM; C7orf22; PP10187
NCBI Gene ID
83605
UniProt
Q9BSQ5
Accession Number
NP_001025006
Accession Number mRNA
NM_001029835
Chromosomal Location
7p13
Reactivity
Human
Cross Reactivity
Human
Label
His-Tag
Sequence
MGSSHHHHHHSSGLVPRGSHMEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLSDYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTAQDPGISPSQSLCAESSRGLSAGSLSESAVGPVEACCLVILAAESKVAAEELCCLLGQVFQVVYTESTIDFLDRAIFDGASTPTHHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQDYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDEWDRMISDISSDIEALGCSMDQDSA
Purity
> 95% by SDS-PAGE
Length
464
Form
Liquid
Buffer
PBS
Molecular Weight
51.0 kDa
Storage Conditions
Store human CCM2 at -20°C. It can be stored at 4°C for a limited period of time of 7 days.
Host or Source
E. coli

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