Aliases: FIP4-Rab11, RAB11-FIP4
Chromosome No: 17
Chromosome Band: 17q11.2
Genetic Category: Genetic association-Rare single gene variant
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Trio-exome sequencing of 745 participants with NDD and/or epilepsy from the Center for Medical Genetics of the University Hospital Antwerp in Smal et al., 2024 identified a de novo missense variant in the RAB11FIP4 gene (NM_032932.6:c.1274G>A;p.Arg425Lys) in a patient presenting with autism spectrum disorder and global developmental delay. De novo frameshift variants in this gene had previously been reported in two male ASD probands from the SPARK cohort in Zhou et al., 2022. An intronic variant in RAB11FIP4 (SNP ID rs178850) was found to be associated with growth and neurological development phenotypes (lambda and Adaptive Bailey, respectively; P-value 2.02E-08) In a population of healthy infants studied in the Growing Up in Singapore Towards Healthy Outcomes (GUSTO) program in Uechi et al., 2020.
Molecular Function
The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma.
External Links
