EC Number   |
General Information |
Reference |
|---|
  2.3.1.298 | malfunction |
enzyme deficiency in mice results in complete loss of ultra-long-chain acyl moities (C26 or higher), lack of continuous extracellular lipid lamellae and a non-functional cornified lipid envelope. Consequently newborn mutant mice die shortly after birth from transepidermal water loss. Mutant skin is also prone to Candida albicans infection |
753770 |
| 2.3.1.298 | malfunction |
enzyme knockdown causes a reduction in the elongase activities toward ultra-long-chain acyl-CoAs |
755196 |
| 2.3.1.298 | malfunction |
enzyme loss leads to tubular atrophy and apoptosis of predominantly primary spermatocytes |
753771 |
| 2.3.1.298 | malfunction |
enzyme mutations are associated with skin ichthyosis. Enzyme-deficient mice show death after birth due to transepidermal water loss, hyperkeratosis, deficient cornification, and increased susceptibility to Candida albicans infection |
752798 |
| 2.3.1.298 | malfunction |
profiles of non-hydroxylated and 2-hydroxy-ceramides in transgenic HeLa cells expressing different CerS isozymes and or different specific interfence RNAs, overview |
754361 |
| 2.3.1.298 | metabolism |
the enzyme positively regulates very-long chain and ultra-long-chain fatty acid synthesis in keratinocytes. The enzyme regulates activities of ELOVL1 and ELOVL4 in differentiated keratinocytes |
755196 |
| 2.3.1.298 | physiological function |
ceramides are synthesized by ceramide synthases through the addition of a variable length fatty acid to the amine group of a sphingoid base. In mammalian cells, the sphingoid base used for de novo ceramide synthesis is usually the C18:0 lipid dihydrosphingosine. Ceramide synthesis is catalyzed by a family of six ceramide synthases (CERS1-6), each of which preferentially transfers fatty acids of different lengths to the amine group of dihydrosphingosine |
754626 |
| 2.3.1.298 | physiological function |
epidermal ceramides are generated by sphingomyelin hydrolysis or synthesis from sphingosin and fatty acids and are degraded by ceramidase. In aged skin occur decreased levels of stratum corneum ceramides. Epidermal acid sphingomyelinase (A-SMase) generates ceramides with structural function in the stratum corneum lipid bilayers, which provide for the permeability barrier function of the skin. Reduced A-SMase and ceramide synthase activities are found in the epidermis of aged mice, but ceramidase activity is not age-dependent |
-, 753509 |
| 2.3.1.298 | physiological function |
isozyme CerS3 may be important in ceramide and 2-hydroxy-ceramide synthesis in epidermis. Differences in the expression patterns of CerS family members may play an important role in the production of the CER/2-hydroxy ceramide (CER) compositions of different chain lengths observed in different cell types and even in the altered production that occurring during keratinocyte differentiation |
754361 |
| 2.3.1.298 | physiological function |
the enzyme is essential for spermatogenesis and fertility |
754143 |
