STX10 Rabbit Polyclonal Antibody, 50ul Low-speed Centrifuges Defects in this gene are

Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients

and telecanthus (MMCAT) and cone-rod dystrophy in human patients

some of which are disease-associated mutations

and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency

The binding and regulatory activities of this protein have been demonstrated in the regulation of a variety of genes including lactoferrin

STX10 Rabbit Polyclonal Antibody, 50ul Low-speed Centrifuges Defects in this gene areThis gene belongs to the syntaxin family and encodes a soluble N ethylmaleimide sensitive factor attachment protein receptor (SNARE). The encoded protein is involved in docking and fusion events at the Golgi apparatus. Alternative splicing results in multiple transcript variants.