ACSL4 Chromosome X
Acyl-CoA synthetase long chain family member 4
Upload your DNA to see your personal genotypes for variants in ACSL4.
What This Gene Does
The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the cognitive disability or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Acyl-CoA synthetase family
Locus Type
gene with protein product
Location
Xq23
Ensembl
ENSG00000068366
Associated Conditions (11)
Inborn genetic diseases
ACSL4-related disorder
Thyroid cancer
nonmedullary
1
Intellectual disability
X-linked 63
Non-syndromic X-linked intellectual disability
Sarcoma
Uterine corpus endometrial carcinoma
Malignant tumor of esophagus
Key Variants
RS148996116
Conflicting classifications of pathogenicity
Inborn genetic diseases, ACSL4-related disorder, Thyroid cancer
Health Risk
RS1569420470
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 63, Intellectual disability
Health Risk
RS183171123
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS192665139
Conflicting classifications of pathogenicity
Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability
Health Risk
RS193072191
Conflicting classifications of pathogenicity
Non-syndromic X-linked intellectual disability, ACSL4-related disorder, Sarcoma
Health Risk
RS200451158
Conflicting classifications of pathogenicity
Inborn genetic diseases, ACSL4-related disorder, Inborn genetic diseases
Health Risk
RS201269990
Conflicting classifications of pathogenicity
Health Risk
RS2521177673
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS750659716
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, X-linked 63
Health Risk
RS122458139
Likely pathogenic
Intellectual disability, X-linked 63, Intellectual disability
Health Risk
RS1603401125
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1924147806
Likely pathogenic
Intellectual disability, X-linked 63, Intellectual disability
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148996116 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ACSL4-related disorder, Thyroid cancer |
| RS1569420470 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 63, Intellectual disability |
| RS183171123 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS192665139 | Health Risk | Conflicting classifications of pathogenicity | Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability |
| RS193072191 | Health Risk | Conflicting classifications of pathogenicity | Non-syndromic X-linked intellectual disability, ACSL4-related disorder, Sarcoma |
| RS200451158 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ACSL4-related disorder, Inborn genetic diseases |
| RS201269990 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2521177673 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS750659716 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked 63 |
| RS122458139 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 63, Intellectual disability |
| RS1603401125 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1924147806 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 63, Intellectual disability |
| RS2147391497 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 63, Intellectual disability |
| RS2521078665 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 63, Intellectual disability |
| RS2521231477 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 63, Intellectual disability |
| RS122458138 | Health Risk | Pathogenic | Intellectual disability, X-linked 63, Intellectual disability |
| RS1569423317 | Health Risk | Pathogenic | Intellectual disability, X-linked 63, Intellectual disability |
| RS2147437405 | Health Risk | Pathogenic | Intellectual disability, X-linked 63, Intellectual disability |
| RS886042180 | Health Risk | Pathogenic | — |