FUZ Gene
FUZ planar cell polarity protein
Gene Information Card
| Symbol | FUZ |
|---|---|
| Full Name | FUZ planar cell polarity protein |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 80199 ncbi.nlm.nih.gov/gene/80199 |
| Ensembl ID | ENSG00000104872 |
| UniProt ID | Q9H7Z6 |
| OMIM ID | 610200 |
| HGNC ID | 29519 |
| Aliases | Fuz, MKS9, C19orf63 |
Description
FUZ encodes a protein involved in planar cell polarity (PCP) and ciliogenesis. It is a component of the intraflagellar transport (IFT) complex A and is essential for ciliary assembly and function. Mutations in FUZ are associated with neural tube defects, including craniorachischisis, and ciliopathy phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects (craniorachischisis) | Disruption of PCP signaling and ciliary function leads to failure of neural tube closure | PMID: 23527047 |
| Meckel syndrome type 9 (MKS9) | Loss of FUZ function impairs ciliogenesis, causing cystic kidney dysplasia and encephalocele | OMIM #614209 |
| Joubert syndrome | Ciliary dysfunction due to FUZ variants results in cerebellar vermis hypoplasia and retinal dystrophy | PMID: 28973083 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Lung | 6.1 | Low |
| Testis | 15.2 | Medium |
| Liver | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| HeLa | 7.8 | Low expression |
| SH-SY5Y | 14.2 | Moderate expression |
| HepG2 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely null allele |
| c.679C>T (p.Arg227*) | nonsense | <0.01% | Premature stop, loss of function |
| c.1042G>A (p.Gly348Arg) | missense | <0.01% | Impaired ciliogenesis in cellular assays |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated protein and loss of ciliary function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (GO:0005515) | • GO:0005737 (GO:0005737) |
| • GO:0005813 (GO:0005813) | • GO:0005929 (GO:0005929) |
| • GO:0030030 (GO:0030030) | • GO:0030992 (GO:0030992) |
| • GO:0060271 (GO:0060271) |
Pathways
• Planar cell polarity pathway (Reactome R-HSA-4086400)
• Intraflagellar transport (Reactome R-HSA-5620920)
Protein Summary
FUZ is a 449-amino acid protein localized to the cilium and centrosome. It functions as part of the IFT-A complex, mediating retrograde intraflagellar transport. The protein is essential for ciliary assembly and maintenance, and its disruption leads to defects in Hedgehog signaling and planar cell polarity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FUZ Knockout HEK293 Cell Line | EDJ-KQ9482 | Human | 80199 | Details Get a Quote |
| FUZ Knockout A-549 Cell Line | EDJ-KQ36199 | Human | 80199 | Details Get a Quote |
| FUZ Knockout HCT 116 Cell Line | EDJ-KQ36200 | Human | 80199 | Details Get a Quote |
| FUZ Knockout HeLa Cell Line | EDJ-KQ36201 | Human | 80199 | Details Get a Quote |
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