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Immunogen sequence: CEKFGNGESG MGRIPDWTPQ AYDPLDVLVP YFVPNTPAAR ADLAAQYTTV GRMDQGVGLV LQELRDAGVL NDTLVIFTSD NGIPFPSGRT NLYWPGTAEP L
SGSH is one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined.
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: heparan sulfate sulfatase; mucopolysaccharidosis type IIIA; N-sulphoglucosamine sulphohydrolase; Sulfoglucosamine sulfamidase; Sulphamidase
基因别名: HSS; MPS3A; SFMD; SGSH
UniProt ID: (Human) P51688
Entrez Gene ID: (Human) 6448