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Product Name CPA6 Chinese Name 胰羧肽酶A6抗体 Alias Carboxypeptidase A6; Carboxypeptidase B; CBPA6_HUMAN; CPA6; CPAH. Research Area Tumour Neurobiology Cell adhesion molecule Extracellular matrix Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, Pig, Cow, Horse, Sheep, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 36kDa Cellular localization Extracellular matrix Secretory protein Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human CPA6: 201-300/437 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail The protein encoded by this gene belongs to the family of carboxypeptidases, which catalyze the release of C-terminal amino acid, and have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Polymorphic variants and a reciprocal translocation t(6;8)(q26;q13) involving this gene, have been associated with Duane retraction syndrome.[provided by RefSeq, Sep 2010]
Function:
May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II.
Subcellular Location:
Secreted; extracellular space; extracellular matrix.
Tissue Specificity:
Expressed in the hippocampus, nucleus raphe, and cortex.
DISEASE:
Note=A chromosomal aberration involving CPA6 was found in a patient with Duane retraction syndrome. Translocation t(6;8)(q26;q13).
Defects in CPA6 are the cause of epilepsy, familial temporal lobe, type 5 (ETL5) [MIM:614417]. ETL5 is a focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature.
Defects in CPA6 are the cause of familial febrile convulsions type 11 (FEB11) [MIM:614418]. FEB11 consists of seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.
Similarity:
Belongs to the peptidase M14 family.
SWISS:
Q8N4T0
Gene ID:
57094
Database links:Entrez Gene: 57094 Human
Omim: 609562 Human
SwissProt: Q8N4T0 Human
Unigene: 658850 Human
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