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Peptide sequence: KKEIEMHSIN DKQVVLCISV DVSQDYNQVE NVIKQAQEKL GPVDMLVNCA
Sequence homology: Cow: 93%; Dog: 93%; Guinea Pig: 100%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%; Zebrafish: 86%
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