AAH38799.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
PCDH21 protein
NCBI Official Synonym Full Names
cadherin-related family member 1
NCBI Protein Information
cadherin-related family member 1; MT-protocadherin; protocadherin-21; photoreceptor cadherin
UniProt Protein Name
Cadherin-related family member 1
UniProt Synonym Protein Names
Photoreceptor cadherin; prCAD; Protocadherin-21
UniProt Synonym Gene Names
UniProt Entry Name
CDHR1_HUMAN
NCBI Summary for CDHR1
This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]
UniProt Comments for CDHR1
PCDH21: Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells. Defects in CDHR1 are the cause of cone-rod dystrophy type 15 (CORD15). CORD15 is an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell adhesion; Membrane protein, integral
Chromosomal Location of Human Ortholog: 10q23.1
Cellular Component: plasma membrane; integral to membrane
Molecular Function: calcium ion binding
Biological Process: homophilic cell adhesion
Disease: Cone-rod Dystrophy 15
Research Articles on CDHR1
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Diseases associated with anti-CDHR1 antibody
Organs/Tissues associated with anti-CDHR1 antibody
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