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 (12.41)
* Spinal muscular atrophy, distal, X-linked, 2 - (12.41)

UBA5
Ubiquitin-Like Modifier Activating Enzyme 5



3q22.1
* Spinocerebellar ataxia, autosomal recessive 24 - SACR24 (13.77)

UBAP1
Ubiquitin-associated protein 1



9p13.3
* Spastic paraplegia 80, autosomal dominant - SPG80 (15.21)

UBQLN2
Ubiquilin 2



Xp11.21
* Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15 (12.58)

UCHL1
Ubiquitin Carboxyl-Terminal Esterase L1



4p13
* Spastic paraplegia 79, autosomal recessive - SPG79 (15.67)

UNC13A
Unc-13 homolog A (C. elegans)



19p13.11
* Presynaptic congenital myasthenic sydrome related to MUNC13-1 - (11.37)

UNC45B
UNC45 Myosin Chaperone B



17q12
* Scapuloperoneal myopathy, MYH7-related - SPMM (3.63)