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Sequence of this protein is as follows: YQLTLWGPEG NILDYANKQL AGLVANYYTP RWRLFLEALV DSVAQGIPFQ QHQFDKNVFQ LEQAFVLSKQ RYPSQPRGDT VDLAKKIFLK YYPGWVAGS
This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Alpha-N-acetylglucosaminidase; alpha-N-acetylglucosaminidase, lysosomal; N-acetyl-alpha-glucosaminidase; N-acetyl-glucosaminidase; N-acetylglucosaminidase, alpha; NAG; testicular tissue protein Li 18
基因别名: CMT2V; MPS-IIIB; MPS3B; NAG; NAGLU; UFHSD; UFHSD1
UniProt ID: (Human) P54802
Entrez Gene ID: (Human) 4669, (Mouse) 27419