FABP7
Homo sapiens
Gene Name: fatty acid binding protein 7, brain
Aliases: MRG; BLBP; FABPB; B-FABP
Chromosome No: 6
Chromosome Band: 6q22.31
Genetic Category: Genetic Association-Rare Single Gene variant, Genetic Association-Functional/rare single gene variant
Aliases: MRG; BLBP; FABPB; B-FABP
Chromosome No: 6
Chromosome Band: 6q22.31
Genetic Category: Genetic Association-Rare Single Gene variant, Genetic Association-Functional/rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 3
Annotated variants: 10
Associated CNVs: 8
Evidence score: 0
ASD Reports: 7
Recent Reports: 3
Annotated variants: 10
Associated CNVs: 8
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Some rare and some common variants in the FABP7 gene were found in autistic patients. However, none were found to have significant genetic association with autism (Maekawa et al., 2010). In a separate study, genetic association was found, however, between the FABP7 gene and bipolar disorder in the Japanese population (Iwayama et al., 2010).
Molecular Function
The encoded protein binds long-chain fatty acids and other hydrophobic ligands
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Polymorphism screening of brain-expressed FABP7, 5 and 3 genes and association studies in autism and schizophrenia in Japanese subjects.
ASD
SCZ
Support
Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies.
ASD
SCZ
Highly Cited
Brain lipid-binding protein (BLBP): a novel signaling system in the developing mammalian CNS.
Recent Recommendation
Identification of intracellular carriers for the endocannabinoid anandamide.
Recent Recommendation
Association analyses between brain-expressed fatty-acid binding protein (FABP) genes and schizophrenia and bipolar disorder.
BPD
Recent Recommendation
Nuclear factor I regulates brain fatty acid-binding protein and glial fibrillary acidic protein gene expression in malignant glioma cell lines.
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
GEN086C003
intron_variant, 3_prime_UTR_variant
rs9401595
c.349-1047A>G;c.*1323A>G
A/G
Japanese
Discovery
