FUZ Chromosome 19
Fuzzy planar cell polarity protein
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What This Gene Does
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]
Gene Info
Gene Group
Ciliogenesis and planar polarity effector complex subunits
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000010361
Associated Conditions (5)
Jeune thoracic dystrophy
Short-rib thoracic dysplasia 6 with or without polydactyly
Neural tube defects
susceptibility to
Neural tube defect
Key Variants
RS368721486
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Jeune thoracic dystrophy
Health Risk
RS548706733
Pathogenic/Likely pathogenic
Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
RS137955120
risk factor
Neural tube defects, susceptibility to, Neural tube defects
Health Risk
RS139365610
risk factor
Neural tube defects, susceptibility to, Neural tube defects
Health Risk
RS387907204
risk factor
Neural tube defects, susceptibility to, Neural tube defects
Health Risk
RS762455950
Uncertain significance; association
Neural tube defect, Neural tube defect
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS368721486 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS548706733 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS137955120 | Health Risk | risk factor | Neural tube defects, susceptibility to, Neural tube defects |
| RS139365610 | Health Risk | risk factor | Neural tube defects, susceptibility to, Neural tube defects |
| RS387907204 | Health Risk | risk factor | Neural tube defects, susceptibility to, Neural tube defects |
| RS762455950 | Health Risk | Uncertain significance; association | Neural tube defect, Neural tube defect |