NPC2


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NPC2

A gene on chromosome 14q24.3 that encodes a protein with a lipid recognition domain, which is thought to transport cholesterol through the endosomal/liposomal system.

Molecular pathology
NPC2 mutations are linked to Niemann-Pick disease type C2 and frontal lobe atrophy.
References in periodicals archive ?
Se asocia con la mutacion de NPC1 en el 95% de los casos y una mutacion de NPC2 en el 4% (66).
Niemann-Picktype C proteins NPC1 and NPC2 are critically important for unloading of cholesterol from LE.
Niemann-Pick C2 (NPC2) gene is involved in sterol transportations through protein membrane interaction [40].
The downstream effector of IGF2BP2 in this setting is unknown; however, the known IGF2BP2 targets mediating focal adhesion remodeling and microtubule regulation may be involved in NPC2 cell stemness control and inhibition of differentiation [16].
The lysosomal proteins that facilitate this process include saposins, GM2 activator protein, Niemann-Pick C2 (NPC2) protein, and CD1e [8, 73-81].
Chen, "Involvement of cathepsins B and L in inflammation and cholesterol trafficking protein NPC2 secretion in macrophages," Obesity, vol.
They also discovered that the action of vitamin A was dependent on the expression of a gene called NPC2. Further experiments in the lab showed that even if an infected blood cell was stimulated with vitamin A, it would not be able to fight the TB bacteria if the cell couldn't express the NPC2 gene.
One of the mechanisms regulating cellular cholesterol homeostasis is export from endosomes by Niemann-Pick disease proteins (NPC1 and NPC2) (Cheruku et al, 2006).
To analyze these force recordings, we evaluated a variety of characteristics: maximal force (Fmax), mean force during the first minute of stimulation (Fm1n), number of series of claps (Nps), number of tonic contractions (Ntc), number of claps per series of claps (Npc1, Npc2, Npc3 etc) mean force change per series of claps (Fpcm1, Fpcm2, Fpcm3 etc), clapping rate during each series (rpc1, rpc2, rpc3 etc), force change and duration of the tonic contractions (Ftc1, Ftc2, Ftc3, etc and Dtc1, Dtc2, Dtc3 etc, respectively), maximum number of claps per series (Npc max), mean clapping rate (rpcm) and total number of claps(Npctot).