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PCDH24 is a member of the cadherin superfamily of calcium-dependent cell-cell adhesion molecules. Additionally we are shipping Protocadherin 21 Antibodies (25) and Protocadherin 21 Kits (6) and many more products for this protein.
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we delineate the retinal pathology of two families segregating autosomal recessive retinal dystrophy (show MERTK Proteins) due to two previously undescribed mutations in CDHR1.
Lack of CDHR1 in the human retina causes symptoms related to cone photoreceptor dysfunction.
A novel splice site mutation of CDHR1, c.1485+2T>G, underlying autosomal recessive cone-rod dystrophy has been described in a consanguineous Israeli Christian Arab family.
High-resolution retinal imaging revealed outer retinal changes suggesting that CDHR1 is important for normal photoreceptor structure and survival.
To our knowledge, this is the first report of mutations in PCDH21 as a cause of human disease, autosomal recessive cone-rod dystrophy.
Biallelic mutations in the photoreceptor-specific gene PCDH21 cause recessive retinal degeneration in humans.
PCDH21 mutations are not a major cause of the retinal diseases investigated herein, and the corresponding human phenotype remains to be determined.
Data indicate junctions between the inner segment (IS) and the outer segment (OS) that contain the photoreceptor-specific cadherin, PCDH21 (pr-CAD).
prCAD ectodomain cleavage is an integral part of the outer segment assembly process, and outer segment assembly might be driven, at least in part, by the near irreversibility of proteolysis.
This gene is a member of the cadherin superfamily of calcium-dependent cell-cell adhesion molecules. This non-classical cadherin appears to be exclusively expressed in the mitral and tufted cells in the main and accessory olfactory bulbs of the brain, suggesting a possible role in the formation and maintenance of neuronal networks. Alternatively spliced transcript variants encoding different isoform have been identified.
, photoreceptor cadherin
, protocadherin 21
, photoreceptor protocadherin