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Immunogen sequence: ARPNIPVYR DWEMVGRYYE EFPINLKTGE ANLTQIYLQE ALDFIKRQAR HHPFFLYWAV DATHAPVYAS KPFLGTSQRG RYGDAVREID DSIGKILELL QDLHVADNTF VFFTSDNGAA LISAPEQGGS NGPFLCGKQT TFEGGMREPA LAWWPGHVTA GQVSHQLGSI MDLFTTSLAL AGLTPPSDRA IDGLNLLPTL LQGRLMDRPI FYYRGDTLMA ATLGQHKAHF WTWTNSWENF RQGIDFCPGQ NVSGVTTHNL EDHTKLPLIF HLGRDPGERF PLSFASAEYQ EALSRITSVV QQHQEALVPA QPQLNVCNWA VMNWAPPGCE KLGKCLTPPE SIPKKCLWSH (174-522 aa encoded by BC050684)
This gene encodes N-acetylgalactosamine-6-sulfatase whichis a lysosomal exohydrolase required for the degradation of theglycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate.Sequence alterations including point, missense and nonsensemutations, as well as those that affect splicing, result in adeficiency of this enzyme. Deficiencies of this enzyme lead toMorquio A syndrome, a lysosomal storage disorder.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Chondroitinase; Chondroitinsulfatase; galactosamine (N-acetyl)-6-sulfate sulfatase; Galactose-6-sulfate sulfatase; GalN6S; GalNAc6S sulfatase; N-acetylgalactosamine-6-sulfatase; N-acetylgalactosamine-6-sulfate sulfatase
Gene Aliases: GalN6S; GALNAC6S; GALNS; GAS; mFLJ00319; MPS4A
UniProt ID: (Human) P34059, (Mouse) Q3TWQ4, (Rat) Q32KJ6
Entrez Gene ID: (Human) 2588, (Mouse) 50917, (Rat) 292073
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