SLC27A4 Chromosome 9
Solute carrier family 27 member 4
Upload your DNA to see your personal genotypes for variants in SLC27A4.
What This Gene Does
This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"Acyl-CoA synthetase family|Solute carrier family 27"
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000167114
Associated Conditions (5)
SLC27A4-related disorder
Inborn genetic diseases
Ichthyosis prematurity syndrome
Lamellar ichthyosis
Autosomal recessive congenital ichthyosis
Key Variants
RS140481562
Conflicting classifications of pathogenicity
SLC27A4-related disorder, Inborn genetic diseases, SLC27A4-related disorder
Health Risk
RS760194495
Conflicting classifications of pathogenicity
Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
Health Risk
RS770645288
Conflicting classifications of pathogenicity
Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
Health Risk
RS770792971
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS776594920
Conflicting classifications of pathogenicity
Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
Health Risk
RS1454874748
Likely pathogenic
Ichthyosis prematurity syndrome, Lamellar ichthyosis, Ichthyosis prematurity syndrome
Health Risk
RS1588559786
Likely pathogenic
Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
Health Risk
RS1588560194
Likely pathogenic
Health Risk
RS1832756019
Likely pathogenic
Health Risk
RS1832802732
Likely pathogenic
Lamellar ichthyosis, Lamellar ichthyosis
Health Risk
RS2131249868
Likely pathogenic
Lamellar ichthyosis, Lamellar ichthyosis
Health Risk
RS2131259309
Likely pathogenic
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140481562 | Health Risk | Conflicting classifications of pathogenicity | SLC27A4-related disorder, Inborn genetic diseases, SLC27A4-related disorder |
| RS760194495 | Health Risk | Conflicting classifications of pathogenicity | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS770645288 | Health Risk | Conflicting classifications of pathogenicity | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS770792971 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776594920 | Health Risk | Conflicting classifications of pathogenicity | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS1454874748 | Health Risk | Likely pathogenic | Ichthyosis prematurity syndrome, Lamellar ichthyosis, Ichthyosis prematurity syndrome |
| RS1588559786 | Health Risk | Likely pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS1588560194 | Health Risk | Likely pathogenic | — |
| RS1832756019 | Health Risk | Likely pathogenic | — |
| RS1832802732 | Health Risk | Likely pathogenic | Lamellar ichthyosis, Lamellar ichthyosis |
| RS2131249868 | Health Risk | Likely pathogenic | Lamellar ichthyosis, Lamellar ichthyosis |
| RS2131259309 | Health Risk | Likely pathogenic | — |
| RS2539457972 | Health Risk | Likely pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS2539458063 | Health Risk | Likely pathogenic | — |
| RS2539458093 | Health Risk | Likely pathogenic | — |
| RS2539458101 | Health Risk | Likely pathogenic | — |
| RS2539462332 | Health Risk | Likely pathogenic | — |
| RS765311079 | Health Risk | Likely pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS1237832401 | Health Risk | Pathogenic | — |
| RS1336441841 | Health Risk | Pathogenic | — |
| RS137853132 | Health Risk | Pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS142366975 | Health Risk | Pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS1832767186 | Health Risk | Pathogenic | — |
| RS2131265398 | Health Risk | Pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS2131266064 | Health Risk | Pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS2539457976 | Health Risk | Pathogenic | — |
| RS2539458046 | Health Risk | Pathogenic | — |
| RS2539458072 | Health Risk | Pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS2539461916 | Health Risk | Pathogenic | — |
| RS2539463083 | Health Risk | Pathogenic | — |
| RS2539465699 | Health Risk | Pathogenic | — |
| RS2539465763 | Health Risk | Pathogenic | — |
| RS369542828 | Health Risk | Pathogenic | — |
| RS746178942 | Health Risk | Pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS755361442 | Health Risk | Pathogenic | — |
| RS763625583 | Health Risk | Pathogenic | — |
| RS764219842 | Health Risk | Pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS764922350 | Health Risk | Pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS777972512 | Health Risk | Pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS869312967 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1340721389 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS137853131 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis prematurity syndrome, Autosomal recessive congenital ichthyosis, Ichthyosis prematurity syndrome |
| RS137853134 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis prematurity syndrome, Lamellar ichthyosis, Ichthyosis prematurity syndrome |
| RS147688821 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |
| RS368207076 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS587776384 | Health Risk | Pathogenic/Likely pathogenic | Lamellar ichthyosis, Ichthyosis prematurity syndrome, Lamellar ichthyosis |
| RS758657421 | Health Risk | Pathogenic/Likely pathogenic | Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome |