GTD2B Rabbit Polyclonal Antibody, 50ul Cell Separation and Collection Mutation in this gene results

Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia

such read-through transcripts are contained in GeneID 407977

2010 [PubMed: 20933441])

Mutations in this gene are associated with cryptorchidism

setting in motion a cascade of downstream signals

GTD2B Rabbit Polyclonal Antibody, 50ul Cell Separation and Collection Mutation in this gene resultsThis gene encodes a glycosylated phosphoprotein with a leucine zipper motif two helix loop helix motifs (I repeats) that are similar to domains found in the TFII I family of transcription factors one CHARLIE8 transposable element like sequence and a BED zinc finger. This gene lies within a region that is deleted in Williams Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however not all