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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.
Highly Cited
Characterization of CNS precursor subtypes and radial glia.
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.
Recent Recommendation
Identification of intracellular carriers for the endocannabinoid anandamide.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN087R001 
 2KB_upstream_variant 
 T>A 
  
  
  
  
 GEN087R002 
 missense_variant 
 c.182C>T 
 p.Thr61Met 
  
  
  
 GEN087R003 
 intron_variant 
 A>G 
  
  
  
  
 GEN087R004 
 missense_variant 
 c.376G>C 
 p.Val126Leu 
  
  
  
 GEN087R005 
 frameshift_variant 
 c.239del 
 p.Asn80ThrfsTer27 
 Unknown 
  
 Unknown 
 GEN087R006 
 missense_variant 
 c.256A>G 
 p.Ser86Gly 
 Unknown 
  
 Unknown 
 GEN087R007 
 missense_variant 
 c.376G>C 
 p.Val126Leu 
 Unknown 
  
 Unknown 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN086C001 
 5_prime_UTR_variant 
 rs9372716 
  
 T/C 
 Japanese 
 Discovery 
 GEN086C002 
 intron_variant 
 rs2279382 
 c.74-63T>G 
 T/G 
 Japanese 
 Discovery 
 GEN086C003 
 intron_variant, 3_prime_UTR_variant 
 rs9401595 
 c.349-1047A>G;c.*1323A>G 
 A/G 
 Japanese 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
APC adenomatous polyposis coli 324 P25054 HITS-CLIP
Preitner N , et al. 2014
Nr2f1 nuclear receptor subfamily 2, group F, member 1 13865 Q60632 Gene microarray; qRT-PCR; WB; ChIP
Montemayor C , et al. 2010
Pax6 paired box 6 25509 P63016 Gene microarray; qRT-PCR; in situ hybridization
Numayama-Tsuruta K , et al. 2010

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