Aliases: BDK, BK, HMWK, KNG
Chromosome No: 3
Chromosome Band: 3q27.3
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 10
Evidence score: 2
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Relevance to Autism
Integration of familial whole-exome datasets of 3,531 individuals from 1,704 simplex ASD families and 50 multiplex ASD families and expression data from the BrainSpan Atlas of the Developmental Human Brain in Luo et al., 2020 identified a neurodevelopmentally co-regulated, sex-differentially expressed cluster of exons enriched with ASD-segregating deleterious variants in the KNG1 gene (Bonferroni-corrected cluster P-value of 1.89E-04).
Molecular Function
This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation.
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