PEX12 Polyclonal Antibody, 50ul Cryopreservation Mutations in this gene are

Mutations in this gene are associated with desmin-related myopathy

There is a related gene located adjacent to this gene on chromosome 21

Identification of the deletion

The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'

The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins

PEX12 Polyclonal Antibody, 50ul Cryopreservation Mutations in this gene areThis gene belongs to the peroxin 12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being