PDE6C recombinant protein

PDE6C recombinant protein

Cat. Num. AAA515155

• Gene Names: PDE6C; COD4; ACHM5; PDEA2
• Applications: Western Blot
• Synonyms: PDE6C; PDE6C recombinant protein; PDEA2

• Host: Sf9 insect cells
• Form/Format: 50mM Tris-HCl, pH 7.5, 50mM NaCl, 10mM glutathione, 0.1mM EDTA, 0.25mM DTT, 0.1mM PMSF, 25% glycerol.
• Sequence Length: 2635

• Applicable Applications for PDE6C recombinant protein: Western Blot (WB)
• Type: Recombinant Fusion Protein
• Species: Human
• Tag Information: GST tag
• Expression System: Sf9 insect cells using baculovirus
• Source Note: Recombinant full-length human PDE6C was expressed by baculovirus in Sf9 insect cells
• Preparation and Storage: Store product at -70 degree C. For optimal storage, aliquot target into smaller quantities after centrifugation and store at recommended temperature. For most favorable performance, avoid repeated handling and multiple freeze/thaw cycles.

SDS-PAGE

Related Product Information for PDE6C recombinant protein

Recombinant full-length human PDE6C was expressed by baculovirus in Sf9 insect cells using an N-terminal GST tag.

Scientific Background: PDE6C or phosphodiesterase 6C, cGMP-specific, cone, alpha prime encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. PDE6C protein consists of 22 exons spanning approximately 48 kb of genomic DNA. The intron-exon structure of human PDE6C is very similar to that of rod PDE6B (1). A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene and mutations in PDE6C are associated with cone dystrophy type 4 (COD4) (2).

Product Categories/Family for PDE6C recombinant protein

Cellular Proteins; Signaling Proteins - Cellular Proteins

References

1. Chang, B. et.al: A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.
2. Piriev, N. I. et.al: Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha-prime subunit (PDEA2) and its chromosomal localization to 10q24. Genomics 28: 429-435, 1995.

NCBI and Uniprot Product Information

• NCBI GI #: 109939748
• NCBI GeneID: 5146
• UniProt Accession #: P51160; Q5VY29; A6NCR6
• Molecular Weight: ~125 kDa
• NCBI Official Full Name: Synthetic construct Homo sapiens clone IMAGE:40080654, MGC:133442 PDE6C protein (PDE6C) mRNA, encodes complete protein
• NCBI Official Synonym Full Names: phosphodiesterase 6C, cGMP-specific, cone, alpha prime
• NCBI Official Symbol: PDE6C
• NCBI Official Synonym Symbols: COD4; ACHM5; PDEA2
• NCBI Protein Information: cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'; cGMP phosphodiesterase 6C
• UniProt Protein Name: Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
• Protein Family: Cone cGMP-specific 3',5'-cyclic phosphodiesterase
• UniProt Gene Name: PDE6C
• UniProt Synonym Gene Names: PDEA2
• UniProt Entry Name: PDE6C_HUMAN

NCBI Description

This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]

Uniprot Description

Catalytic activity: Guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate.

Cofactor: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions

By similarity.

Subunit structure: Composed of two alpha' subunits that are associated with 3 smaller proteins of 11, 13, and 15 kDa.

Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side

Potential.

Involvement in disease: Cone dystrophy 4 (COD4) [MIM:613093]: An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities: Belongs to the cyclic nucleotide phosphodiesterase family.Contains 2 GAF domains.