KDSR

Chr 18q21.33

3-ketodihydrosphingosine reductase

Aliases:: DHSR, SDR35C1
MANE:: ENST00000645214.2

OMIM: 136440 ↗NCBI: 2531 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

KDSR · Q06136

v62025-08-01

Predicted Aligned Error matrix for KDSR — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.4/ 100

Very high

332 residues

Confidence breakdown

Very high(≥ 90)87%
Confident(70–90)13%
Low(50–70)0%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratoderma and erythrokeratodermas
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

erythrokeratodermia variabilis et progressiva 4
0.78
erythrokeratodermia variabilis
0.46
prostate carcinoma
0.42
blood platelet disease
0.37
neurodegenerative disease
0.36
lymphoid neoplasm
0.19
B-cell chronic lymphocytic leukemia
0.19
hereditary disease
0.19
plasma cell myeloma
0.19
breast carcinoma
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

3-ketodihydrosphingosine reductase

Catalyzes the reduction of 3'-oxosphinganine (3-ketodihydrosphingosine/KDS) to sphinganine (dihydrosphingosine/DHS), the second step of de novo sphingolipid biosynthesis