Immunogen sequence: LMADAQRQDR PFFLYYASHH THYPQFSGQS FAERSGRGPF GDSLMELDAA VGTLMTAIGD LGLLEETLVI FTADNGPETM RMSRGGCSGL LRCGKGTTYE GGVREPALAF WPGHIAPGVT HELASSLDLL PTLAALAGAP LPNVTLDGFD LSPLLLGTGK SPRQSLFFYP SYPDEVRGVF AVRTGKYKAH FFTQGSAHSD TTADPACHAS SSLTAHEPPL LYDLSKDPGE NYNLLGGVAG ATPEVLQALK QLQLLKAQLD AAVTFGPSQV ARGEDPALQI CCHPGCTPRP ACCHCPDPHA; Positive Samples: Jurkat, HeLa, HepG2, A-549, Mouse testis, Mouse liver, Mouse brain; Cellular Location: Lysosome
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leukodystrophy, a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene.
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Protein Aliases: Arylsulfatase A; Arylsulfatase A component B; Arylsulfatase A component C; ASA; Cerebroside-sulfatase
Gene Aliases: ARSA; As-2; AS-A; As2; ASA; AW212749; MLD; TISP73
Molecular Function: hydrolase