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Rabbit Anti-CPA6/FITC Conjugated antibody
background:
The protein encoded by this gene belongs to the family of carboxypeptidases, which catalyze the release of SLCterminal 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.
Database links:
Entrez Gene: 57094 Human
Omim: 609562 Human
SwissProt: Q8N4T0 Human
Unigene: 658850 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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