Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

UBA1
Ubiquitin-activating enzyme 1



Xp11.23
* Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2 (12.35)

UBQLN2
Ubiquilin 2



Xp11.21
* Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15 (12.52)

UCHL1
Ubiquitin Carboxyl-Terminal Esterase L1



4p13
* Spastic paraplegia 79, autosomal recessive - SPG79 (15.62)

UNC13B
unc-13 homolog B (C. elegans)



9p13.3
* Presynaptic congenital myasthenic sydrome related to MUNC13-1 - (11.36)