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Invitrogen
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Immunogen sequence: RSGRGPFGDS LMELDAAVGT LMTAIGDLGL LEETLVIFTA DNGPETMRMS RGGCSGLLRC GKGTTYEGGV REPALAFWPG HIAPGVTHEL ASSLDLLPTL AALAGAPLPN VTLDGFDLSP LLLGTGKSPR QSLFFYPSYP DEVRGVFAVR TGKYKAHFFT QGSAHSDTTA DPACHASSSL TAHEPPLLYD LSKDPGENYN LLGGVAGATP EVLQALKQLQ LLKAQLDAAV TFGPSQVARG
Highest antigen sequence identity to the following orthologs: Mouse - 84%, Rat - 39%, Pig - 91%, Cynomolgus monkey - 97%.
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy, 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.
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: ARSA-I; ARSA1; Arylsulfatase A; ASA; ASNA-I; ATPase ASNA1; Cerebroside-sulfatase; EC 3.1.6.8; GET3; hASNA-I; TRC40
基因别名: ARSA; MLD
UniProt ID: (Human) P15289
Entrez Gene ID: (Human) 410