protein
Forkhead box protein G1
Gene
FOXG1
Organism
Homo sapiens(9606)
Length
489 aa
Mass
52,352 Da
FOXG1 encodes a forkhead box transcription repression factor that plays a critical role in establishing regional subdivisions of the developing brain and in telencephalon development (UniProt: P55316). The protein is 489 amino acids in length and functions as a transcriptional regulator during early neurogenesis.
Mutations in FOXG1 are associated with Rett syndrome congenital variant (RTTCV), a severe neurodevelopmental disorder characterized by earlier onset than classic Rett syndrome, with clinical features including progressive microcephaly, hypotonia, neonatal irresponsiveness and irritability, intellectual disability, psychomotor regression, and stereotypical movements (UniProt: P55316).
FOXG1 is classified as a high-confidence syndromic autism risk gene (SFARI Cat S, syndromic). Its role in early brain development and its association with severe neurodevelopmental phenotypes including autism-related features position it as relevant to understanding neurodevelopmental disorder etiology.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon
Disease associations
Rett syndrome congenital variantRTTCV
A severe neurodevelopmental disorder with features of classic Rett syndrome but earlier onset in the first months of life. Clinical features include progressive microcephaly, hypotonia, irresponsiveness and irritability in the neonatal period, intellectual disability, psychomotor regression and stereotypical movements.
Sources
Last updated 5/6/2026, 5:24:57 AM