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Fibronectin type III and SPRY domain containing 1-like (FSD1L)
- Target
- FSD1L
- Molecular classification
- Other (centrosome-associated protein), Fibronectin type III domain-containing protein, SPRY domain-containing protein
01
Overview
FSD1L encodes a protein highly expressed in fetal and adult brain, involved in centrosomal integrity and microtubule organization via its fibronectin type III and SPRY domains[1][2][3][8][10]. Mutations lead to neurodevelopmental disorders such as intellectual disability and hydrocephalus, with evidence for impaired neural stem cell migration, differentiation, and transcriptional regulation in mutants[2][5]. Associations extend to biomarker roles for metabolic conditions and potential modulation of developmental timing and cancer susceptibility via genetic interactions[4][13]. There are no current reports of FSD1L as a direct target for approved drugs, nor is it classified as a conventional therapeutic target.
- Other names
- FSD1LFSD1-like proteinCCDC10CSDUFD1FSD1CLFSD1NLCoiled-coil domain-containing protein 10FSD1 N-terminal-like proteinMIR1FSD1 C-terminal likecystatin and DUF19 domain containing 1
02
Mechanism of action
None established (no drugs targeting FSD1L, indirect modulation through genetic variation)
03
Biological functions
Putative regulation of neurodevelopmentCentrosome integrity and microtubule organization during cell divisionPossible regulator of transcriptional programs in neural development
04
Disease associations
Neurodevelopmental disorders (developmental delay, intellectual disability, epilepsy, spasticity, corpus callosum defects, hydrocephalus)Genetic susceptibility to head and neck cancer (via epistasis)Potential involvement in reproductive development (age at menarche)
05
Biomarkers
Blood DNA methylation variation at FSD1L associated with maternal glycemia in pregnancyGenetic mutation in FSD1L as a biomarker for intellectual disability and hydrocephalus
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