FGGY Carbohydrate Kinase Domain Containing Protein (FGGY)

FGGY encodes a protein with an apparent molecular mass of about 48 kD. Expression was detected in kidney, lung, and small intestine, with lower levels in liver. A protein doublet of about 48 to 50 kD was detected in fetal brain, along with proteins of lower molecular mass. A doublet of about 45 to 48 kD was detected in spinal cord samples from both normal controls and patients with sporadic amyotrophic lateral sclerosis (ALS).

Dunckley et al. (2007) provided evidence suggestive of an association between the FLJ10986 gene and sporadic amyotrophic lateral sclerosis in 3 independent patient populations. The susceptibility allele of rs6690993, which lies approximately 60 kb upstream of the FLJ10986 gene, conferred an odds ratio of 1.35 (p = 3.0 x 10(-4)) in white ALS patients.