HGSNAT has a TATA-less promoter with multiple starts of transcription

Abstrakt

Acetyl-CoA:α-glucosaminide N-acetyltransferase (N-acetyltransferase) is a lysosomal membrane enzyme that catalyzes a key step in the lysosomal degradation of heparan sulfate. Its deficiency causes Sanfilippo syndrome type IIIC (Mucopolysaccharidosis type IIIC, MPS IIIC).

Here we characterize the promoter region of HGSNAT, the gene encoding N-acetyltransferase, which is located in the pericentromeric region of chromosome 8.

Klíčová slova

• MPS IIIC
• HGSNAT
• N-acetyltransferase
• Promoter
• Sp1
• Housekeeping gene