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HSPB3 Polyclonal Antibody, 50ul Plasmid Preparation Mutations in HSD3B7 are associated

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HSPB3 Polyclonal Antibody, 50ul Plasmid Preparation Mutations in HSD3B7 are associatedThis gene encodes a muscle specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.

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Description

Mutations in HSD3B7 are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis

The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator

this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta)

PML is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL)

HSPB3 Polyclonal Antibody, 50ul Plasmid Preparation Mutations in HSD3B7 are associatedThis gene encodes a muscle specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.

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