Gene: PCARE

Alternate names for this Gene: C2orf71|RP54

Gene Summary: The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.2

Description of this Gene: photoreceptor cilium actin regulator

Type of Gene: protein-coding

rs140776870 in PCARE gene and RETINITIS PIGMENTOSA 54 PMID 21412943 2011 Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

PMID 20398886 2010 Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

PMID 20398884 2010 Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

rs750987123 in PCARE gene and Retinal Dystrophies PMID 20398886 2010 Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

rs367658438 in PCARE gene and Retinitis Pigmentosa PMID 21412943 2011 Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.