FLT1
Homo sapiens
Gene Name: fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor)
Aliases: FLT, VEGFR1
Chromosome No: 13
Chromosome Band: 13q12.3
Genetic Category: Functional-Rare single gene variant
Aliases: FLT, VEGFR1
Chromosome No: 13
Chromosome Band: 13q12.3
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 7
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 7
Evidence score: 2
Associated Disorders: |
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Relevance to Autism
Differential expression of the FLT1 gene has been shown to occur in some autistic individuals (Hu et al., 2006).
Molecular Function
The encoded protein is a receptor for vascular endothelial growth factor.
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
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Genome-wide detection of tandem DNA repeats that are expanded in autism
ASD
Highly Cited
Expression of vascular endothelial growth factors and their receptors during osteoblast differentiation.
Recent Recommendation
A SNP in the flt-1 promoter integrates the VEGF system into the p53 transcriptional network.