FASN Chromosome 17
Fatty acid synthase
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What This Gene Does
The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Short chain dehydrogenase/reductase superfamily|7BS orphan methyltransferases"
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000169710
Associated Conditions (2)
Epileptic encephalopathy
FASN-related disorder
Key Variants
RS140221463
Conflicting classifications of pathogenicity
Epileptic encephalopathy, FASN-related disorder, Epileptic encephalopathy
Health Risk
RS140375571
Conflicting classifications of pathogenicity
Epileptic encephalopathy, FASN-related disorder, Epileptic encephalopathy
Health Risk
RS141275719
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS145247848
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS145687504
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS148372886
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS149224679
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS149454216
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS150075575
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS150915750
Conflicting classifications of pathogenicity
Epileptic encephalopathy, FASN-related disorder, Epileptic encephalopathy
Health Risk
RS151134760
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS199746221
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140221463 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, FASN-related disorder, Epileptic encephalopathy |
| RS140375571 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, FASN-related disorder, Epileptic encephalopathy |
| RS141275719 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS145247848 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS145687504 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS148372886 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS149224679 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS149454216 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS150075575 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS150915750 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, FASN-related disorder, Epileptic encephalopathy |
| RS151134760 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS199746221 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS199937454 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS199956437 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS372061454 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS373838349 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, FASN-related disorder, Epileptic encephalopathy |
| RS376111170 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS546995952 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS549257982 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS62642478 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS753756949 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS760902072 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS762427627 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS764001564 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS764159372 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, FASN-related disorder, Epileptic encephalopathy |
| RS764626319 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS767896302 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS773063554 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS776776391 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS778511525 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |