F13A1
Homo sapiens
Gene Name: coagulation factor XIII, A1 polypeptide
Aliases: RP11-232H4.1, F13A
Chromosome No: 6
Chromosome Band: 6p25.1
Genetic Category: Functional-Multigenic CNV-Rare single gene variant
Aliases: RP11-232H4.1, F13A
Chromosome No: 6
Chromosome Band: 6p25.1
Genetic Category: Functional-Multigenic CNV-Rare single gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 9
Evidence score: 2
ASD Reports: 8
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Differential expression of the F13A1 gene has been shown to occur in some autistic individuals (Hu et al., 2006).
Molecular Function
The encoded protein has protein-glutamine gamma-glutamyltransferase activity. I t participates in blood coagulation cascade.
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
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Support
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
OCD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Highly Cited
Novel aspects of blood coagulation factor XIII. I. Structure, distribution, activation, and function.
Recent Recommendation
Superoxide generation by human neutrophils induced by low doses of Escherichia coli hemolysin.