Carboxypeptidase A6 Recombinant Protein | CPA6 recombinant protein

Recombinant Human Carboxypeptidase A6

Cat. Num. AAA1330838

• Gene Names: CPA6; CPAH; ETL5; FEB11
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Carboxypeptidase A6; Recombinant Human Carboxypeptidase A6; CPA6 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 130-437; Full Length of Mature Protein
• Sequence: SLSGYNYEVYHSLEEIQNWMHHLNKTHSGLIHMFSIGRSYEGRSLFILKLGRRSRLKRAVWIDCGIHAREWIGPAFCQWFVKEALLTYKSDPAMRKMLNHLYFYIMPVFNVDGYHFSWTNDRFWRKTRSRNSRFRCRGVDANRNWKVKWCDEGASMHPCDDTYCGPFPESEPEVKAVANFLRKHRKHIRAYLSFHAYAQMLLYPYSYKYATIPNFRCVESAAYKAVNALQSVYGVRYRYGPASTTLYVSSGSSMDWAYKNGIPYAFAFELRDTGYFGFLLPEMLIKPTCTETMLAVKNITMHLLKKCP

• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for CPA6 recombinant protein

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.

Product Categories/Family for CPA6 recombinant protein

Signal Transduction

References

Identification and characterization of three members of the human metallocarboxypeptidase gene family.Wei S., Segura S., Vendrell J., Aviles F.X., Lanoue E., Day R., Feng Y., Fricker L.D.J. Biol. Chem. 277:14954-14964(2002) A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.Pizzuti A., Calabrese G., Bozzali M., Telvi L., Morizio E., Guida V., Gatta V., Stuppia L., Ion A., Palka G., Dallapiccola B.Invest. Ophthalmol. Vis. Sci. 43:3609-3612(2002) Novel genes expressed in hematopoietic stem/progenitor cells from myelodysplastic syndrome patients.Gu J., Huang Q., Yu Y., Xu S., Han Z., Fu G., Chen Z. Characterization of carboxypeptidase A6, an extracellular matrix peptidase.Lyons P.J., Callaway M.B., Fricker L.D.J. Biol. Chem. 283:7054-7063(2008) Substrate specificity of human carboxypeptidase A6.Lyons P.J., Fricker L.D.J. Biol. Chem. 285:38234-38242(2010) Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.Salzmann A., Guipponi M., Lyons P.J., Fricker L.D., Sapio M., Lambercy C., Buresi C., Bencheikh B.O., Lahjouji F., Ouazzani R., Crespel A., Chaigne D., Malafosse A.Hum. Mutat. 33:124-135(2012)

NCBI and Uniprot Product Information

• NCBI GI #: 188536067
• NCBI GeneID: 57094
• NCBI Accession #: NP_065094.3
• NCBI GenBank Nucleotide #: NM_020361.4
• UniProt Accession #: Q8N4T0; Q8NEX8; Q8TDE8; Q9NRI9
• Molecular Weight: 52.2 kDa
• NCBI Official Full Name: carboxypeptidase A6 preproprotein
• NCBI Official Synonym Full Names: carboxypeptidase A6
• NCBI Official Symbol: CPA6
• NCBI Official Synonym Symbols: CPAH; ETL5; FEB11
• NCBI Protein Information: carboxypeptidase A6
• UniProt Protein Name: Carboxypeptidase A6
• Protein Family: Carboxypeptidase
• UniProt Gene Name: CPA6
• UniProt Synonym Gene Names: CPAH
• UniProt Entry Name: CBPA6_HUMAN

NCBI Description

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]

Uniprot Description

CPA6: 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. 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). 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). 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. Belongs to the peptidase M14 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Secreted, signal peptide; EC 3.4.17.1; Protease

Chromosomal Location of Human Ortholog: 8q13.2

Cellular Component: extracellular space; proteinaceous extracellular matrix

Molecular Function: metallocarboxypeptidase activity; zinc ion binding

Biological Process: proteolysis

Disease: Epilepsy, Familial Temporal Lobe, 5; Febrile Seizures, Familial, 11