DJC12 Rabbit Polyclonal Antibody, 50ul Multiplex Immunoassays Mutations in this gene are

Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome

but the full-length nature of only some of these variants has been described

may be involved in plasma membrane recycling

This protein may also play a role in early development

that have been divided into 3 groups on the basis of sequence homology

DJC12 Rabbit Polyclonal Antibody, 50ul Multiplex Immunoassays Mutations in this gene areThis gene encodes a member of a subclass of the HSP40 DnaJ protein family. Members of this family of proteins are associated with complex assembly protein folding and export. Two transcript variants encoding distinct isoforms have been identified for this gene.