Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Editor

Personal info

View

About

Terms

Javascript disabled

Please enable Javascript support in your browser to use this application.

Instructions on how to enable JavaScript on different browsers can be found here: http://www.google.com/support/bin/answer.py?answer=23852.

[edit this page]

Gene Review:

Rbfox1 - RNA binding protein, fox-1 homolog (C....

Mus musculus

Synonyms: A2bp, A2bp1, Ataxin-2-binding protein 1, FOX1, Fox-1 homolog A, ...

Kiehl, T.R. et al., Nakahata, S. et al., Trudeau, M.M. et al., Jin, Y. et al.

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Psychiatry related information on A2bp1

RESULTS: A 2 bp deletion in exon 24 was identified in a 9 year old boy with mental retardation, pancerebellar atrophy, and ataxia [1].

High impact information on A2bp1

In zebrafish and mouse, fox-1 is expressed in heart and skeletal muscles [2].
This study suggests a role for A2bp1 in embryogenesis as well as in the adult nervous system, possibly mediated by a function in RNA distribution or processing [3].
The A2bp1 protein was detected by immunocytochemistry in the CNS and connective tissue of the mouse embryo starting at stage E11, as well as in the heart at all stages [3].
The A2bp1 transcript was found in various regions of the CNS including cerebellum, cerebral cortex, brain stem, and thalamus/hypothalamus [3].
Here, we demonstrate that both mouse Fxh and A2BP1 transcripts undergo tissue-specific alternative splicing, generating protein isoforms specific to brain and muscle [4].

References

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. Trudeau, M.M., Dalton, J.C., Day, J.W., Ranum, L.P., Meisler, M.H. J. Med. Genet. (2006) [Pubmed]
A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG. Jin, Y., Suzuki, H., Maegawa, S., Endo, H., Sugano, S., Hashimoto, K., Yasuda, K., Inoue, K. EMBO J. (2003) [Pubmed]
Identification and expression of a mouse ortholog of A2BP1. Kiehl, T.R., Shibata, H., Vo, T., Huynh, D.P., Pulst, S.M. Mamm. Genome (2001) [Pubmed]
Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities. Nakahata, S., Kawamoto, S. Nucleic Acids Res. (2005) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

RBFOX1	Canis lupus familiaris
rbfox1	Danio rerio
RBFOX1	Gallus gallus
RBFOX1	Homo sapiens
RBFOX1	Pan troglodytes
Rbfox1	Rattus norvegicus
rbfox1	Xenopus (Silurana) tropicalis

The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.