NP_001171809.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
protocadherin-19 isoform c
NCBI Official Synonym Full Names
protocadherin 19
NCBI Official Synonym Symbols
NCBI Protein Information
protocadherin-19
UniProt Protein Name
Protocadherin-19
UniProt Synonym Gene Names
UniProt Entry Name
PCD19_HUMAN
NCBI Summary for PCDH19
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
UniProt Comments for PCDH19
Function: Potential calcium-dependent cell-adhesion protein.
Subcellular location: Cell membrane; Single-pass type I membrane protein
By similarity.
Tissue specificity: Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast. Ref.1 Ref.5
Developmental stage: Expressed in developing cortical plate, amygdala and subcortical regions and in the ganglionic eminence. Ref.1
Involvement in disease: Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14
Sequence similarities: Contains 6 cadherin domains.
Sequence caution: The sequence CAH18133.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence CAI41393.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence CAI41394.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
Research Articles on PCDH19
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Products associated with anti-PCDH19 antibody
Diseases associated with anti-PCDH19 antibody
Organs/Tissues associated with anti-PCDH19 antibody
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