FNBP4
Sign in to saveAlso known as FBP30, formin binding protein 4
Formin-binding protein 4 is a protein that in humans is encoded by the FNBP4 gene.
Gene data
FNBP4- Name
- formin binding protein 4
- Type
- protein-coding
- Aliases
- FBP30
This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 9087
- exact match
- identifiers.org/ncbigene/23360
- genomic start
- 47716494
- genomic end
- 47788995
- cytogenetic location
- 11p11.2
Sources (4)
via Wikidata · CC0
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Article
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- References
- Further reading
Formin-binding protein 4 is a protein that in humans is encoded by the FNBP4 gene.
Mutations in this gene have been found associated to cases similar to microphthalmia with limb anomalies (doi: 10.1002/ajmg.a.35983).