SLC27A4
Homo sapiens
Gene Name: Solute carrier family 27 (fatty acid transporter), member 4
Aliases: ACSVL4, FATP4, IPS
Chromosome No: 9
Chromosome Band: 9q34.11
Genetic Category: Rare single gene variant, genetic association-Syndromic-Rare single gene variant
Aliases: ACSVL4, FATP4, IPS
Chromosome No: 9
Chromosome Band: 9q34.11
Genetic Category: Rare single gene variant, genetic association-Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A functional polymorphism statistically enriched in Japanese ASD cases compared to ethnically-matched controls, as well as two novel case-specific missense variants in Japanese male ASD probands, were identified in the SLC27A4 gene (Maekawa et al., 2015).
Molecular Function
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. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome, and mutations in this gene have been associated with ichthyosis prematurity syndrome (OMIM 608649).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Investigation of the fatty acid transporter-encoding genes SLC27A3 and SLC27A4 in autism.
ASD
Support
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population
DD, epilepsy/seizures
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN784C001
missense_variant
rs2240953
c.625G>A
p.Gly209Ser
267 Japanese ASD cases, 1140 Japanese controls
Discovery
