| UniProt Protein Function: | FUZ: Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. May regulate the morphogenesis of hair follicles which depends on functional primary cilia. Belongs to the fuzzy family. 3 isoforms of the human protein are produced by alternative splicing.Chromosomal Location of Human Ortholog: 19q13.33Cellular Component: cytoskeleton; cytoplasmBiological Process: spinal cord dorsal/ventral patterning; embryonic skeletal morphogenesis; negative regulation of cell proliferation; embryonic body morphogenesis; protein transport; hair follicle development; sensory cilium biogenesis; neural tube closure; cilium biogenesis; establishment of planar polarity; negative regulation of cell migration; positive regulation of flagellum biogenesis; regulation of smoothened signaling pathwayDisease: Neural Tube Defects |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012] |
| UniProt Code: | Q9BT04 |
| NCBI GenInfo Identifier: | 288541308 |
| NCBI Gene ID: | 80199 |
| NCBI Accession: | NP_001165408 |
| UniProt Secondary Accession: | Q9BT04 |
| UniProt Related Accession: | Q9BT04 |
| Molecular Weight: | 41kDa |
| NCBI Full Name: | protein fuzzy homolog isoform 2 |
| NCBI Synonym Full Names: | fuzzy planar cell polarity protein |
| NCBI Official Symbol: | FUZÂ Â |
| NCBI Official Synonym Symbols: | FY; NTD; CPLANE3Â Â |
| NCBI Protein Information: | protein fuzzy homolog |
| UniProt Protein Name: | Protein fuzzy homolog |
| UniProt Synonym Protein Names: | |
| Protein Family: | Protein fuzzy |
| UniProt Gene Name: | FUZÂ Â |
| UniProt Entry Name: | FUZZY_HUMAN |
