Search Thermo Fisher Scientific
Peptide Sequence: 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.
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: 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
基因别名: DHSR; FVT1; KDSR; SDR35C1
UniProt ID: (Human) Q06136
Entrez Gene ID: (Human) 2531