Product Name
PCDH19, Monoclonal Antibody
Full Product Name
PCDH19 (Protocadherin-19, DKFZp686P1843, KIAA1313)
Product Synonym Names
Anti -PCDH19 (Protocadherin-19, DKFZp686P1843, KIAA1313)
Product Gene Name
anti-PCDH19 antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Immunogen Sequence
RLVPRDVEET DKMNVVSCSS LTSSLNYFDY HQQTLPLGCR RSESTFLNVE NQNTRNTSAN HIYHHSFNSQ GPQQPDLIIN GAPLPETENY SFDSNYVNSR
Chromosome Location
Chromosome: X; NC_000023.10 (99546642..99665271, complement). Location: Xq22.1
3D Structure
ModBase 3D Structure for Q8TAB3
Specificity
Recognizes human PCDH19.
Purity/Purification
Affinity Purified
Purified by Protein A affinity chromatography.
Form/Format
Supplied as a liquid in PBS, pH 7.2.
Immunogen
Partial recombinant corresponding to aa241-341 from human PCDH19 (NP_065817) with GST tag. MW of the GST tag alone is 26kD.
Preparation and Storage
May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Other Notes
Small volumes of anti-PCDH19 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-PCDH19 antibody
Potential calcium-dependent cell-adhesion protein.
Product Categories/Family for anti-PCDH19 antibody
Antibodies; Abs to Cadherin
Applications Tested/Suitable for anti-PCDH19 antibody
ELISA (EL/EIA), Western Blot (WB)
Application Notes for anti-PCDH19 antibody
Suitable for use in ELISA and Western Blot.
NCBI/Uniprot data below describe general gene information for PCDH19. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001171809.1
[Other Products]
NCBI GenBank Nucleotide #
NM_001184880.1
[Other Products]
UniProt Primary Accession #
Q8TAB3
[Other Products]
UniProt Secondary Accession #
Q5JTG1; Q5JTG2; Q68DT7; Q9P2N3; B0LDS4[Other Products]
UniProt Related Accession #
Q8TAB3[Other Products]
Molecular Weight
126,253 Da[Similar Products]
NCBI Official Full Name
protocadherin-19 isoform c
NCBI Official Synonym Full Names
protocadherin 19
NCBI Official Symbol
PCDH19??[Similar Products]
NCBI Official Synonym Symbols
EFMR; EIEE9
??[Similar Products]
NCBI Protein Information
protocadherin-19
UniProt Protein Name
Protocadherin-19
Protein Family
Protocadherin
UniProt Gene Name
PCDH19??[Similar Products]
UniProt Synonym Gene Names
KIAA1313??[Similar Products]
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
1. Phenotypic spectrum associated with PCDH19 mutations in Dravet-like and epilepsy and mental retardation limited to females patients and in males with autism spectrum disorders.
Precautions
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Disclaimer
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