DEGS1 Chromosome 1
Delta 4-desaturase, sphingolipid 1
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What This Gene Does
This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Fatty acid desaturases
Locus Type
gene with protein product
Location
1q42.11
Ensembl
ENSG00000143753
Associated Conditions (5)
Leukodystrophy
hypomyelinating
18
Inborn genetic diseases
DEGS1-related Hypomyelinating Leukodystrophy
Key Variants
RS1388884067
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 18
Health Risk
RS1558209997
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 18
Health Risk
RS377362966
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS771864122
Conflicting classifications of pathogenicity
Leukodystrophy, hypomyelinating, 18
Health Risk
RS1273116884
Likely pathogenic
Leukodystrophy, hypomyelinating, 18
Health Risk
RS1367958450
Likely pathogenic
Leukodystrophy, hypomyelinating, 18
Health Risk
RS1402209451
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1558211070
Likely pathogenic
Leukodystrophy, hypomyelinating, 18
Health Risk
RS2102650567
Likely pathogenic
Health Risk
RS2527259540
Likely pathogenic
Leukodystrophy, hypomyelinating, 18
Health Risk
RS770197183
Likely pathogenic
Leukodystrophy, hypomyelinating, 18
Health Risk
RS1156445260
Pathogenic
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1388884067 | Health Risk | Conflicting classifications of pathogenicity | Leukodystrophy, hypomyelinating, 18 |
| RS1558209997 | Health Risk | Conflicting classifications of pathogenicity | Leukodystrophy, hypomyelinating, 18 |
| RS377362966 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771864122 | Health Risk | Conflicting classifications of pathogenicity | Leukodystrophy, hypomyelinating, 18 |
| RS1273116884 | Health Risk | Likely pathogenic | Leukodystrophy, hypomyelinating, 18 |
| RS1367958450 | Health Risk | Likely pathogenic | Leukodystrophy, hypomyelinating, 18 |
| RS1402209451 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1558211070 | Health Risk | Likely pathogenic | Leukodystrophy, hypomyelinating, 18 |
| RS2102650567 | Health Risk | Likely pathogenic | — |
| RS2527259540 | Health Risk | Likely pathogenic | Leukodystrophy, hypomyelinating, 18 |
| RS770197183 | Health Risk | Likely pathogenic | Leukodystrophy, hypomyelinating, 18 |
| RS1156445260 | Health Risk | Pathogenic | — |
| RS1558209947 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 18 |
| RS1558210191 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 18 |
| RS2102656066 | Health Risk | Pathogenic | — |
| RS2527259690 | Health Risk | Pathogenic | — |
| RS768180196 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 18 |
| RS1280845604 | Health Risk | Pathogenic/Likely pathogenic | Leukodystrophy, hypomyelinating, 18 |
| RS1382083552 | Health Risk | Pathogenic/Likely pathogenic | Leukodystrophy, hypomyelinating, 18 |
| RS2102658561 | Health Risk | Pathogenic/Likely pathogenic | Leukodystrophy, hypomyelinating, 18 |
| RS932183417 | Health Risk | Pathogenic/Likely pathogenic | Leukodystrophy, hypomyelinating, 18 |