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 300 to 400 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.[provided by RefSeq, Feb 2010]
Function:
Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Involved in neural mechanisms mediating the development of speech and language.
Subcellular Location:
Nucleus.
Tissue Specificity:
Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung.
DISEASE:
Defects in FOXP2 are the cause of speech-language disorder 1 (SPCH1) [MIM:602081]; also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Affected individuals have a severe impairment in the selection and sequencing of fine orofacial movements, which are necessary for articulation. They also show deficits in several facets of language processing (such as the ability to break up words into their constituent phonemes) and grammatical skills.
Note=A chromosomal aberration involving FOXP2 is a cause of severe speech and language impairment. Translocation t(5;7)(q22;q31.2).
Similarity:
Contains 1 C2H2-type zinc finger.
Contains 1 fork-head DNA-binding domain.
SWISS:
O15409
Gene ID:
93986
Database links:
Entrez Gene: 93986 Human
Entrez Gene: 114142 Mouse
Entrez Gene: 500037 Rat
Omim: 605317 Human
SwissProt: O15409 Human
SwissProt: P58463 Mouse
SwissProt: P0CF24 Rat
Unigene: 282787 Human
Unigene: 332919 Mouse
Unigene: 134464 Rat
Unigene: 225249 Rat
|
|
