Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Ubiquilin 2
UBQLN2 (Xp11.21)


* Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15 (12.53)
Ubiquitin-activating enzyme 1
UBA1 (Xp11.23)


* Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2 (12.20)
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1
B3GNT1 (11q13.2)


* Walker-Warburg syndrome (WWS) - MDDGA13 (2.27)
UDP-N-acetylglucosami-nyltransferase
ALG13 (Xq23)


* Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1S (2.36)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase
GNE (9p13.3)


* Inclusion body myopathy, autosomal recessive - IBM2 (4.3)
* Nonaka myopathy - NM (4.3)
UDP-N-acetylglucosaminyltransferase
ALG14 (1p21.3)


* Congenital myasthenic syndrome related to ALG14 - (11.24)