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Relevance to Autism

Differential expression of the ITGB7 gene has been shown to occur in some autistic individuals (Hu et al., 2006).

Molecular Function

The encoded protein is a receptor for fibronectin.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of n...
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Highly Cited
Alpha 4 beta 7 integrin mediates lymphocyte binding to the mucosal vascular addressin MAdCAM-1.
Recent Recommendation
L-selectin, alpha 4 beta 1, and alpha 4 beta 7 integrins participate in CD4 T cell recruitment to chronically inflamed small intestine.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN138R001 
 missense_variant 
 c.1852C>T 
 p.Arg618Cys 
 De novo 
  
  
 GEN138R002 
 missense_variant 
 c.2279G>A 
 p.Arg760His 
 De novo 
  
  
 GEN138R003 
 missense_variant 
 c.731G>A 
 p.Arg244Gln 
 De novo 
  
  
 GEN138R004 
 splice_region_variant 
 c.404-6C>A 
  
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
12
Duplication
 1
 
12
Deletion-Duplication
 16
 

No Animal Model Data Available

No PIN Data Available
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