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 (12.68)
Ubiquitin Carboxyl-Terminal Esterase L1
UCHL1 (4p13)


* Spastic paraplegia 79, autosomal recessive - SPG79 (15.69)
* Spastic paraplegia 79, autosomal dominant - SPG79A (15.69, 15.69)
Ubiquitin-activating enzyme 1
UBA1 (Xp11.23)


* Spinal muscular atrophy, distal, X-linked, 2 - (12.50)
* Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2 (12.50)
Ubiquitin-associated protein 1
UBAP1 (9p13.3)


* Spastic paraplegia 80, autosomal dominant - SPG80 (15.22)
Ubiquitin-Like Modifier Activating Enzyme 5
UBA5 (3q22.1)


* Spinocerebellar ataxia, autosomal recessive 24 - SACR24 (13.84)
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1
B4GAT1 (11q13.2)

* Walker-Warburg syndrome (WWS) - MDDGA13 (2.31)
UDP-N-acetylglucosami-nyltransferase
ALG13 (Xq23)


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


* Inclusion body myopathy, autosomal recessive - IBM2 (4.5)
* Nonaka myopathy - NM (4.5)
UDP-N-acetylglucosaminyltransferase
ALG14 (1p21.3)


* Myasthenic syndrome, congenital, 15, without tubular aggregates - CMS15 (11.23)
Unc-13 homolog A (C. elegans)
UNC13A (19p13.11)


* Presynaptic congenital myasthenic sydrome related to MUNC13-1 - (11.39)
UNC45 Myosin Chaperone B
UNC45B (17q12)


* Myofibrillar myopathy 11 - MFM11 (5.12)