Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
BCL2-associated athanogene 3
BAG3 (10q25.2-q26.2)


* myofibrillar myopathy with bag3 defect - (5.9)
Beta sarcoglycan
SGCB (4q12)


* Muscular dystrophy, limb-girdle, type 2E - LGMD2E (1.25)
Beta-1,3-N-acetylgalacto-saminyltransferase 2
B3GALNT2 (1q42.3)


* Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li - MDDGA11 (2.37)
beta-1,4-N-acetyl-galactosaminyl transferase 1
B4GALNT1 (12q13.3)


* Spastic paraplegia 26 - SPG26 (15.31)
Bicaudal D homolog 2 (Drosophila)
BICD2 (9q22.31)


* Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2 (12.27)
blood vessel epicardial substance
BVES (6q21)


* Limb-Girdle, Muscular dystrophy, type 2X - LGMD2X (1.44)
Brain expressed, associated with Nedd42
BEAN1 (16q21)


* spinocerebellar ataxia-31 - SCA31 (13.29)