Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Sequence of this protein is as follows: MLLLAAAFLV AFVLLLYMVS PLISPKPLAL PGAHVVVTGG SSGIGKCIAI ECYKQGAFIT LVARNEDKLL QAKKEIEMHS INDKQVVLCI SVDVSQDYNQ VENVIKQAQE KLGPVDMLVN CAGMAVSGKF EDLEVSTFER LMSINYLGSV YPSRAVITTM KERRVGRIVF VSSQAGQLGL FGFTAYSASK FAIRGLAEAL QMEVKPYNVY ITVAYPPDTD TPGFAEENRT KPLETRLISE TTSVCKPEQV AKQIVKDAIQ GNFNSSLGSD GYMLSALTCG MAPVTSITEG LQQVVTMGLF RTIALFYLGS FDSIVRRCMM QREKSENADK TA
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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Protein Aliases: 3-dehydrosphinganine reductase; 3-ketodihydrosphingosine reductase; follicular lymphoma variant translocation 1; Follicular variant translocation protein 1; FVT-1; KDS reductase; Short chain dehydrogenase/reductase family 35C member 1; short chain dehydrogenase/reductase family 35C, member 1
Gene Aliases: DHSR; FVT1; KDSR; SDR35C1
UniProt ID: (Human) Q06136
Entrez Gene ID: (Human) 2531
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