SP5 Polyclonal Antibody, 50ul[BT-AP14398] Multiplex Immunoassays Defects in this gene are

Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia

Alternative splicing of this gene results in two transcript variants

AMP-N-alanine methyl ester

Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis

SP5 Polyclonal Antibody, 50ul[BT-AP14398] Multiplex Immunoassays Defects in this gene areBinds to GC boxes promoters elements. Probable transcriptional activator that has a role in the coordination of changes in transcription required to generate pattern in the developing embryo.,Belongs to the Sp1 C2H2 type zinc finger protein family.,Contains 3 C2H2 type zinc fingers.,