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Immunogen sequence: DNGIPFPSGR TNLYWPGTAE PLLVSSPEHP KRWGQVSEAY VSLLDLTPTI LDWFSIPYPS YAIFGSKTIH LTGRSLLPAL EAEPLWATVF GSQSHHEVTM SYPMRSVQHR HFRLVHNLNF KMPFPIDQDF YVSPTFQDLL NRTTAGQPTG WYKDLRHYYY RARWELYDRS RDPHETQNLA TDPRFAQLLE MLRDQLAKWQ WETHDPWVCA PDGVLEEKLS PQCQPLHNEL; Positive Samples: MCF7, 22Rv1, HepG2, Mouse liver, Mouse testis; Cellular Location: Lysosome
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-sulfoglucosamine sulfohydrolase; N-sulphoglucosamine sulphohydrolase; Sulfoglucosamine sulfamidase; Sulphamidase
基因别名: 4632406A19Rik; HSS; MPS3A; SFMD; SGSH
UniProt ID: (Human) P51688
Entrez Gene ID: (Human) 6448, (Rat) 688293, (Mouse) 27029