KDSR Chromosome 18
3-ketodihydrosphingosine reductase
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What This Gene Does
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]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
18q21.33
Ensembl
ENSG00000119537
Associated Conditions (4)
Erythrokeratodermia variabilis et progressiva 4
Acute myeloid leukemia
Clear cell carcinoma of kidney
Sarcoma
Key Variants
RS144669389
Likely pathogenic
Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4
Health Risk
RS751571336
Likely pathogenic
Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4
Health Risk
RS752611378
Likely pathogenic
Erythrokeratodermia variabilis et progressiva 4, Acute myeloid leukemia, Clear cell carcinoma of kidney
Health Risk
RS1114167450
Pathogenic
Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4
Health Risk
RS1114167451
Pathogenic
Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4
Health Risk
RS1114167452
Pathogenic
Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144669389 | Health Risk | Likely pathogenic | Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4 |
| RS751571336 | Health Risk | Likely pathogenic | Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4 |
| RS752611378 | Health Risk | Likely pathogenic | Erythrokeratodermia variabilis et progressiva 4, Acute myeloid leukemia, Clear cell carcinoma of kidney |
| RS1114167450 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4 |
| RS1114167451 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4 |
| RS1114167452 | Health Risk | Pathogenic | Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4 |