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Relevance to Autism

Some rare and some common variants in the FABP5 gene were found in autistic patients. However, none were found to have significant genetic association with autism (Maekawa 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
Integrating de novo and inherited variants in 42
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
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
Molecular cloning and expression of a novel keratinocyte protein (psoriasis-associated fatty acid-binding protein [PA-FABP]) that is highly up-regu...
Highly Cited
The mammalian fatty acid-binding protein multigene family: molecular and genetic insights into function.
Recent Recommendation
Expression of fatty acid-binding proteins in adult hippocampal neurogenic niche of postischemic monkeys.
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
 GEN086R001 
 intron_variant 
 C>T 
  
  
  
  
 GEN086R002 
 synonymous_variant 
 c.331T>C 
 p.Leu111= 
  
  
  
 GEN086R003 
 missense_variant 
 c.340G>C 
 p.Gly114Arg 
  
  
  
 GEN086R004 
 frameshift_variant 
 c.253_256del 
 p.Thr85SerfsTer22 
 Familial 
 Maternal 
 Multiplex 
 GEN086R005 
 synonymous_variant 
 c.102A>G 
 p.Lys34%3D 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
8
Duplication
 1
 
8
Duplication
 1
 
8
Deletion
 3
 
8
Deletion
 1
 
8
Deletion
 1
 
8
Deletion
 1
 
8
Deletion-Duplication
 10
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
NR4A2 nuclear receptor subfamily 4, group A, member 2 4929 Q6NXU0 qRT-PCR; ChIP
Volakakis N , et al. 2009
S100A7 S100 calcium binding protein A7 6278 P31151 EMSA; Affinity chromatography; IP/WB
Immunofluorescence; IP/WB
Hagens G , et al. 1999
STK24 serine/threonine kinase 24 8428 Q9Y6E0 IP; MS
Ewing RM , et al. 2007

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