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N-乙酰α-D-氨基葡萄糖苷酶(NAGLU)抗体
半岛bd体育手机客户端 介绍
靶标:
NAGLU 半岛bd体育手机客户端 别名: CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD; NAGLU; N-acetyl-alpha-glucosaminidase; N-acetyl-alpha-glucosaminidase; alpha-N-acetylglucosaminidase; N-acetylglucosaminidase, alpha; testicular tissue protein Li 18; N-乙酰α-D-氨基葡萄糖苷酶(NAGLU); N-乙酰基-α葡萄糖苷酶; 背景信息:
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. [provided by RefSeq, Jul 2008],
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