Gene: PIGL
Alternate names for this Gene: CHIME
Gene Summary: This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum.
Gene is located in Chromosome: 17
Location in Chromosome : 17p11.2
Description of this Gene: phosphatidylinositol glycan anchor biosynthesis class L
Type of Gene: protein-coding
Gene: CENPV
Alternate names for this Gene: 3110013H01Rik|CENP-V|PRR6|p30
Gene Summary:
Gene is located in Chromosome: 17
Location in Chromosome : 17p11.2
Description of this Gene: centromere protein V
Type of Gene: protein-coding
rs7477 in
PIGL;CENPV gene and
Amyotrophic Lateral Sclerosis
PMID 22959728 2013 Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)).
PMID 24931836 2014 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.