CERS3

Chr 15q26.3

ceramide synthase 3

Aliases:: MGC27091
MANE:: ENST00000679737.1

OMIM: 615276 ↗NCBI: 204219 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CERS3 · Q8IU89

v62025-08-01

Predicted Aligned Error matrix for CERS3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.3/ 100

Confident

383 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)19%
Low(50–70)10%
Very low(< 50)4%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Autosomal recessive congenital ichthyosis
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Familial cicatricial alopecia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital non-bullous ichthyosiform erythroderma
0.69
lamellar ichthyosis
0.44
autosomal recessive congenital ichthyosis
0.38
congenital reticular ichthyosiform erythroderma
0.38
Abnormality of the skin
0.33
ichthyosis
0.27
cervical carcinoma
0.25
pathological myopia
0.24
eye disorder
0.24
musculoskeletal system disorder
0.22

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

Protein function (UniProt)

Ceramide synthase 3

Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very- and ultra-long-chain fatty acyl-CoA (chain length greater than C22) (PubMed:17977534, PubMed:22038835, PubMed:26887952). N-acylates sphinganine and sphingosine bases to form dihydroceramides and ceramides in de novo synthesis and salvage pathways, respectively (PubMed:17977534, PubMed:22038835, PubMed:26887952). It is crucial for the synthesis of ultra-long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation (PubMed:23754960)