Aliases:
Chromosome No: 13
Chromosome Band: 13q12.3
Genetic Category: Rare single gene variant-Functional
ASD Reports: 4
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo frameshift variant in the KATNAL1 gene was identified by whole-genome sequencing in an ASD proband from a simplex family from the ASD: Genomes to Outcome Study cohort in Yuen et al., 2017. A mouse line with a loss-of-function missense mutation in the Katnal1 gene was shown in Banks et al., 2017 to exhibit behavioral deficits including decreased ultrasonic vocalizations, circadian rhythm and sleep anomalies, deficits in learning and memory, and hyperactivity, as well as defects in both neuronal migration and morphology and motile cilia of the ependymal lining of the lateral ventricle.
Molecular Function
Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility. Severs microtubules in an ATP-dependent manner, promoting rapid reorganization of cellular microtubule arrays.
External Links
