ZFYVE27 Chromosome 10
Zinc finger FYVE-type containing 27
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What This Gene Does
This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Zinc fingers FYVE-type
Locus Type
gene with protein product
Location
10q24.2
Ensembl
ENSG00000155256
Associated Conditions (23)
Hereditary spastic paraplegia 33
Spastic paraplegia
Spastic tetraparesis
Uveal melanoma
Colon adenocarcinoma
Colorectal cancer
Sarcoma
Uterine corpus endometrial carcinoma
Gastric cancer
Uterine carcinosarcoma
Malignant tumor of esophagus
Lung cancer
Ovarian serous cystadenocarcinoma
Thymoma
Hepatocellular carcinoma
Nonpapillary renal cell carcinoma
Cervical cancer
Thyroid cancer
nonmedullary
1
+3 more conditions
Key Variants
RS1405750745
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 33, Spastic paraplegia, Hereditary spastic paraplegia 33
Health Risk
RS35077384
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 33, Spastic tetraparesis, Spastic paraplegia
Health Risk
RS535449776
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 33, Hereditary spastic paraplegia 33
Health Risk
RS748660256
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1405750745 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 33, Spastic paraplegia, Hereditary spastic paraplegia 33 |
| RS35077384 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 33, Spastic tetraparesis, Spastic paraplegia |
| RS535449776 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 33, Hereditary spastic paraplegia 33 |
| RS748660256 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |