SETX

SETX

A gene on chromosome 9q34 that encodes a protein homolous to fungal Sen1p protein which has RNA helicase activity, and which is thought to be involved in RNA and DNA processing and repairing breaks in double-stranded DNA caused by oxidative damage.

Molecular pathology
SETX mutations have been linked to ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).
References in periodicals archive ?
Here we report HA with oculomotor apraxia type 2 caused by a pathogenic mutation in the SETX gene.
Initialization parameter [mathematical expression not reproducible] While [[sigma].sub.k] >[[sigma].sub.min] 1) Let [[sigma].sub.k] =[phi][[sigma].sub.k-1] ([phi] e (0.4,1)); 2) Minimize the generalized approximate function model Fa(x) on the feasible setx,v 1.
The fuzzy setx is called the rough fuzzy set if BND (X) [not equal to]0.
Las operaciones relevantes sobre un punto son establecer (setX - setY) y obtener (getX - getY) las coordenadas cartesianas de un punto a dibujar, mientras que para una linea son las operaciones propias de sus puntos.
Other group of genes have been found to be associated with FALS with different mechanism of action such as senataxin (SETX) and fused in sarcoma (FUS) genes which have roles in RNA processing and alsin gene which is involved in endosomal trafficking and valosin containing protein (VCP) which is involved in protein degradation [7].
Interestingly, amongst the seven genes that have been identified to cause the disease, most have housekeeping functions, including small heat shock proteins (sHSP) (dHMN-II); glycyl tRNA synthetase (GARS) (dHMN-V); Berardinelli-Seip congenital lipodystrophy (BSCL2) (dHMN-V); immunoglobulin [micro]-binding protein-2 (IGHMBP2) (dHMN-VI); dynactin (DCTN1) (dHMN-VII); and senataxin (SETX) (dHMN) with pyramidal tract signs.
Autosomal dominant inheritance with mutations mapped to chromosome 9p34 in the senataxin (SETX) gene causes ALS4.
The remaining 5-10% of the cases are considered familial (FALS) generally following an autosomal dominant inheritance pattern [7] due to mutations in a number of seemingly disparate genes, including SOD1 [8], ALS2 [9], SETX [10,11], SPG11 [12], FUS [13, 14], VAPB [15], ANG [16, 17], TARDBP [18-20], FIG4 [21], OPTN [22], ATXN2 [23], and C9ORF72 [24, 25].
This pathway depends on Microprocessor, Xrn2, Setx and Rrp6.
Given a fixed setX = {[x.sub.1], [x.sub.2] , ,[x.sub.n] } , an intuitionistic fuzzy set (IFS) is defined as (Atanassov 1986):
Case in point, exome sequencing in a patient suspected with mitochondrial disease revealed a homozygous splice site mutation in SETX, which is known to cause Spinocerebellar Ataxia, Autosomal Recessive 1 (SCAR1).
(24-26) The commands setx and relogitq, available in the same macro, were used to estimate the effect sizes of variables in terms of relative risks instead of odds ratios.