其他名称: FOXP2; CAGH44; TNRC10; Forkhead box protein P2; CAG repeat protein 44; Trinucleotide repeat-containing gene 10 protein
功能: developmental stage:Expressed in the brain at 15 and 22 weeks of gestation, with a pattern of strong cortical, basal ganglia, thalamic and cerebellar expression. Highly expressed in the head and tail of nucleus caudatus and putamen. Restricted expression within the globus pallidus, with high levels in the pars interna, which provides the principal source of output from the basal ganglia to the nucleus centrum medianum thalami (CM) and the major motor relay nuclei of the thalamus. In the thalamus, present in the CM and nucleus medialis dorsalis thalami. Lower levels are observed in the nuclei anterior thalami, dorsal and ventral, and the nucleus parafascicularis thalami. Expressed in the ventrobasal complex comprising the nucleus ventralis posterior lateralis/medialis. The ventral tier of the thalamus exhibits strong expression, including nuclei ventralis anterior, lateralis and posterior lateralis pars oralis. Also expressed in the nucleus subthalamicus bilaterally and in the nucleus ruber.,disease:A chromosomal aberration disrupting FOXP2 is a cause of severe speech and language impairment. Translocation t(5;7)(q22;q31.2).,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.,domain:The leucine-zipper is required for dimerization and transcriptional repression.,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.,online information:FOXP2 entry,online information:Talking heads - Issue 51 of October 2004,similarity:Contains 1 C2H2-type zinc finger.,similarity:Contains 1 fork-head DNA-binding domain.,subunit:Forms homodimers and heterodimers with FOXP1 and FOXP4. Dimerization is required for DNA-binding. Interacts with CTBP1.,tissue specificity:Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Nucleus .
组织表达: Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung.
其他名称: FOXP2; CAGH44; TNRC10; Forkhead box protein P2; CAG repeat protein 44; Trinucleotide repeat-containing gene 10 protein
功能: developmental stage:Expressed in the brain at 15 and 22 weeks of gestation, with a pattern of strong cortical, basal ganglia, thalamic and cerebellar expression. Highly expressed in the head and tail of nucleus caudatus and putamen. Restricted expression within the globus pallidus, with high levels in the pars interna, which provides the principal source of output from the basal ganglia to the nucleus centrum medianum thalami (CM) and the major motor relay nuclei of the thalamus. In the thalamus, present in the CM and nucleus medialis dorsalis thalami. Lower levels are observed in the nuclei anterior thalami, dorsal and ventral, and the nucleus parafascicularis thalami. Expressed in the ventrobasal complex comprising the nucleus ventralis posterior lateralis/medialis. The ventral tier of the thalamus exhibits strong expression, including nuclei ventralis anterior, lateralis and posterior lateralis pars oralis. Also expressed in the nucleus subthalamicus bilaterally and in the nucleus ruber.,disease:A chromosomal aberration disrupting FOXP2 is a cause of severe speech and language impairment. Translocation t(5;7)(q22;q31.2).,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.,domain:The leucine-zipper is required for dimerization and transcriptional repression.,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.,online information:FOXP2 entry,online information:Talking heads - Issue 51 of October 2004,similarity:Contains 1 C2H2-type zinc finger.,similarity:Contains 1 fork-head DNA-binding domain.,subunit:Forms homodimers and heterodimers with FOXP1 and FOXP4. Dimerization is required for DNA-binding. Interacts with CTBP1.,tissue specificity:Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Nucleus .
组织表达: Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung.