| Entry |
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| Name |
Ultra-long-chain omega-hydroxy fatty acyl-CoA synthesis
|
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| Definition |
Palmitoyl-CoA -- ELOVL1,ELOVL4 -> ULCFA -- CYP4F22 -> omega-OH-ULCFA -- FATP4 -> omega-OH-ULCFA-CoA |
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| Expanded |
C00154 -- 64834,6785 -> C22352 -- 126410 -> C22353 -- 10999 -> C23027 |
|---|
| Class |
nt06545 Cornified envelope formation
|
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| Type |
Reference
|
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| Pathway |
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| Disease |
| H00734 Autosomal recessive congenital ichthyosis | |
| H00741 Ichthyosis prematurity syndrome | |
| H02675 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | |
| H02935 Ichthyosis, spastic quadriplegia, and impaired intellectual development | |
|
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| Gene |
| 64834 | ELOVL1; ELOVL fatty acid elongase 1 |
| 6785 | ELOVL4; ELOVL fatty acid elongase 4 |
| 126410 | CYP4F22; cytochrome P450 family 4 subfamily F member 22 |
| 10999 | SLC27A4; solute carrier family 27 member 4 |
|
|---|
| Metabolite |
| C22352 | Ultra-long-chain fatty acid |
| C22353 | Ultra-long-chain omega-hydroxy fatty acid |
| C23027 | Ultra-long-chain omega-hydroxy fatty acyl-CoA |
|
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| Reference |
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| Authors |
Breiden B, Sandhoff K |
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| Title |
The role of sphingolipid metabolism in cutaneous permeability barrier formation. |
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| Journal |
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| Reference |
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| Authors |
Zaki T, Choate K |
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| Title |
Recent advances in understanding inherited disorders of keratinization. |
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| Journal |
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| Reference |
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| Authors |
Yamamoto H, Hattori M, Chamulitrat W, Ohno Y, Kihara A |
|---|
| Title |
Skin permeability barrier formation by the ichthyosis-causative gene FATP4 through formation of the barrier lipid omega-O-acylceramide. |
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| Journal |
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| LinkDB |
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