CERS3: Ceramide Synthase 3
Key enzyme in de novo ceramide synthesis, essential for skin barrier function and spermatogenesis
Gene Information Card
| Symbol | CERS3 |
|---|---|
| Full Name | Ceramide Synthase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.3 |
| NCBI Gene ID | 204219 ncbi.nlm.nih.gov/gene/204219 |
| Ensembl ID | ENSG00000154227 |
| UniProt ID | Q8IU89 |
| OMIM ID | 615276 |
| HGNC ID | 23752 |
| Aliases | LASS3, longevity assurance homolog 3 |
Description
CERS3 (ceramide synthase 3) encodes a member of the ceramide synthase family that catalyzes the synthesis of ceramides with very long-chain fatty acids (C26-C36). The enzyme is primarily expressed in skin, testis, and brain, playing a critical role in epidermal barrier formation and spermatogenesis. Mutations in CERS3 cause autosomal recessive congenital ichthyosis type 9 (ARCI9).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive congenital ichthyosis 9 (ARCI9) | Loss-of-function mutations impair synthesis of very long-chain ceramides, disrupting epidermal lipid barrier | OMIM #615276; multiple homozygous/compound heterozygous mutations reported in families |
| Non-syndromic ichthyosis | Deficient CERS3 activity leads to abnormal stratum corneum lipid composition | ClinVar; case studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.8 | Medium |
| Testis | 8.5 | Medium |
| Brain | 3.2 | Low |
| Lung | 1.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | 15.3 | Primary human keratinocytes |
| Sertoli cells | 9.7 | Testicular cell line |
| SH-SY5Y | 4.2 | Neuroblastoma cell line |
| HeLa | 0.8 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.748C>T (p.Arg250*) | Nonsense | Rare | Loss of function; truncation of catalytic domain |
| c.1253G>A (p.Gly418Asp) | Missense | Rare | Impaired enzyme activity; reduced ceramide synthesis |
| c.1039C>T (p.Arg347Trp) | Missense | Rare | Decreased protein stability; associated with ARCI9 |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function mutations (nonsense, frameshift, missense) cause autosomal recessive congenital ichthyosis 9 by abolishing very long-chain ceramide synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported in CERS3.
Dominant Negative (DN)
No dominant-negative effects described; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • transferase activity (GO:0016747) | • sphingosine N-acyltransferase activity (GO:0017084) |
| • ceramide metabolic process (GO:0006672) | • sphingolipid biosynthetic process (GO:0030148) |
| • endoplasmic reticulum (GO:0005783) | • integral component of membrane (GO:0016021) |
Pathways
• Ceramide de novo biosynthesis (Reactome: R-HSA-1660661)
• Sphingolipid metabolism (KEGG: hsa00600)
• Keratinocyte differentiation (Reactome: R-HSA-6805567)
Protein Summary
Ceramide synthase 3 (CERS3) is a 383-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the acylation of sphingoid bases to form ceramides, specifically using very long-chain fatty acyl-CoAs (C26-C36). The enzyme is essential for the synthesis of epidermal ceramides that constitute the skin permeability barrier and for testicular sphingolipids required for spermatogenesis. CERS3 belongs to the longevity assurance (LASS) family and contains a conserved TLC (TRAM, LAG1, CLN8) domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CERS3 Knockout HEK293 Cell Line | EDJ-KQ1735 | Human | 204219 | Details Get a Quote |
| CERS3 Knockout HeLa Cell Line | EDJ-KQ59052 | Human | 204219 | Details Get a Quote |
| CERS3 Knockout A-549 Cell Line | EDJ-KQ67529 | Human | 204219 | Details Get a Quote |
| CERS3 Knockout HCT 116 Cell Line | EDJ-KQ75926 | Human | 204219 | Details Get a Quote |
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