Gene: CRB1

Alternate names for this Gene: CRB1-A|CRB1-B|CRB1-C|LCA8|RP12

Gene Summary: This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.3

Description of this Gene: crumbs cell polarity complex component 1

Type of Gene: protein-coding

Gene: ZBTB41

Alternate names for this Gene: FRBZ1|ZNF924

Gene Summary:

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.3

Description of this Gene: zinc finger and BTB domain containing 41

Type of Gene: protein-coding

rs6690022 in CRB1;ZBTB41 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.