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Gene : KDSR Homo sapiens

Name  ? 3-ketodihydrosphingosine reductase Cytological Location  18q21.33
Brief Description  3-ketodihydrosphingosine reductase
description  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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • SDR35C1,
  • SDR35C1,
  • uc010dpw.4,
  • KDSR,
  • DHSR,
  • follicular lymphoma variant translocation 1,
  • DHSR,
  • OTTHUMG00000132792,
  • NM_002035,
  • 3-dehydrosphinganine reductase,
  • FVT1,
  • HGNC:4021,
  • EKVP4,
  • short chain dehydrogenase/reductase family 35C, member 1,
  • FVT1
  • identifiers:
  • 2531,
  • ENSG00000119537,
  • KDSR

Genome feature

Region: gene ? Length: 39538  
Location: 18:63327736-63367273 reverse strand Cyto location: 18q21.33


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

709 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results