ER6L2 Rabbit Polyclonal Antibody, 20ul Digital Burette After thrombin activation

After thrombin activation

which represents an unusual regulatory mode for controlling the precise expression of a single gene

Defects in SIX1 are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3)

which are characterized by the presence of O-linked-N-acetylglucosamine moieties and a distinctive pentapeptide repeat (XFXFG)

which is similar to FMRP and FXR1

ER6L2 Rabbit Polyclonal Antibody, 20ul Digital Burette After thrombin activationThis gene encodes a member of the Snf2 family of helicase like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described.