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Persona de contacto Ms. Emily
45-1 Ramsey Road, Shirley, New York
This gene encodes a member of the forkhead/winged-helix (FOX)
family of transcription factors. It is expressed in fetal and adult
brain as well as in several other organs such as the lung and gut.
The protein product contains a FOX DNA-binding domain and a large
polyglutamine tract and is an evolutionarily conserved
transcription factor, which may bind directly to approximately **0
to **0 gene promoters in the human genome to regulate the
expression of a variety of genes. This gene is required for proper
development of speech and language regions of the brain during
embryogenesis, and may be involved in a variety of biological
pathways and cascades that may ultimately influence language
development. Mutations in this gene cause speech-language disorder
1 (SPCH1), also known as autosomal dominant speech and language
disorder with orofacial dyspraxia. Multiple alternative transcripts
encoding different isoforms have been identified in this gene.
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