Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
UBA1Ubiquitin-activating enzyme 1      | Xp11.23 | * Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2 (12.48)
* Spinal muscular atrophy, distal, X-linked, 2 - (12.48)
|
UBA5Ubiquitin-Like Modifier Activating Enzyme 5 | 3q22.1 | * Spinocerebellar ataxia, autosomal recessive 24 - SACR24 (13.84)
|
UBAP1Ubiquitin-associated protein 1 | 9p13.3 | * Spastic paraplegia 80, autosomal dominant - SPG80 (15.24)
|
| Xp11.21 | * Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15 (12.66)
|
UCHL1Ubiquitin Carboxyl-Terminal Esterase L1 | 4p13 | * Spastic paraplegia 79, autosomal recessive - SPG79 (15.23, 15.72)
* Spastic paraplegia 79, autosomal dominant - SPG79A (15.23, 15.72)
|
UNC13AUnc-13 homolog A (C. elegans) | 19p13.11 | * Presynaptic congenital myasthenic sydrome related to MUNC13-1 - (11.39)
|
UNC45BUNC45 Myosin Chaperone B | 17q12 | * Myofibrillar myopathy 11 - MFM11 (5.12)
|