SG196 Rabbit Polyclonal Antibody, 100ul Nucleic Acid Amplification Mutations in this gene can

Mutations in this gene can result in vitamin D-dependent rickets type I

Mutations in this gene are associated with papillary renal cell carcinoma| hepatocellular carcinoma| and various head and neck cancers

This gene belongs to the T-box family of genes

Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system

The protein encoded by this gene belongs to the Ser/Thr protein kinase family| and PIM subfamily

SG196 Rabbit Polyclonal Antibody, 100ul Nucleic Acid Amplification Mutations in this gene canThis gene encodes a protein that may be involved in the presentation of the laminin binding O linked carbohydrate chain of alpha dystroglycan (a DG) which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker Warburg syndrome (WWS) phenotype.