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| GENATLAS PHENOTYPE |
| last update : 25-10-2018 |
| Symbol | ARCC4 |
| Location | 3p21.31 |
| Name | congenital cataract, autosomal recessive 4 |
| Corresponding gene | FYCO1 |
| Other symbol(s) | CTRCT18 |
| Main clinical features | arCC in consanguineous Pakistani families, PMID: 21636066 |
| Genetic determination | autosomal recessive |
| Function/system disorder | eye |
| Type | disease |
| Gene product |
| Name | a PI(3)P-binding protein family member that is associated with the exterior of autophagosomes and mediates microtubule plus-end-directed vesicle transport |
| Remark(s) | FYCO1 is involved in lens development and transparency in humans, and mutations in this gene are one of the most common causes of arCC in the Pakistani population |