Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Sequence of this protein is as follows: FVLLLYMVSP LISPKPLALP GAHVVVTGGS SGIGKCIAIE CYKQGAFITL VARNEDKLLQ AKKEIEMHSI NDKQVVLCIS VDVSQDYNQV ENVIKQAQEK LGPVDMLVNC AGMAVSGKFE DLEVSTFERL MSINYLGSVY PSRAVITTMK ERRVGRIVFV SSQAGQLGLF GFTAYSASKF AIRGLAEALQ MEVKPYNVYI TVAYPPDTDT PGFAEENRTK PLETRLISET TSVCKPEQVA KQIVKDAIQG NFNSSLGSDG YMLSALTCGM APVTSITEGL QQVVTMGLFR TIALFYLGSF DSIVRRCMMQ REKSENADKT A
The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy.
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