Immunogen sequence: LAGPSLTEKP WALGAGDFNS ALKGSPGFQD KLWNPMKGEE GRIPAAGASQ LDRAWQSFGL PLGSSEKLFG ALKSEEKLWD PFSLEEGPAE EPPSKGAVKE EKGGGGAEEE EEELWSDSEH NFLDENIGGV AVAPAH; Positive Samples: Jurkat, HT-29, SKOV3, Mouse lung, Rat thymus; Cellular Location: Cytoplasm, Nucleus
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 mucopolysaccharidosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined.
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Protein Aliases: Methylcytosine dioxygenase TET3; probable methylcytosine dioxygenase TET3; putative methylcytosine dioxygenase; Tet methylcytosine deoxygenase 3 isoform; tet methylcytosine dioxygenase 3; tet oncogene family member 3
Gene Aliases: B430006D22Rik; BC037432; D230004J03Rik; hCG_40738; KIAA0401; TET3