PDE6H Human

Phosphodiesterase 6H cGMP-Specific Cone Gamma Human Recombinant
Cat. No.
BT18545
Source
Escherichia Coli.
Synonyms
Phosphodiesterase 6H, CGMP-Specific, Cone, Gamma, Retinal Cone Rhodopsin-Sensitive CGMP 3',5'-Cyclic Phosphodiesterase, Subunit Gamma, EC 3.1.4.35, EC 3.1.4.17, RCD3, GMP-PDE Gamma, ACHM6, PDE6H.
Appearance
Sterile Filtered colorless solution.
Purity
Greater than 80% as determined by SDS-PAGE.
Usage
THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.
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Description

PDE6H Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 106 amino acids (1-83 a.a) and having a molecular mass of 11.5 kDa.
PDE6H is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Product Specs

Introduction
PDE6H is a member of the rod/cone cGMP-PDE gamma subunit family. This family is responsible for regulating the levels, location, and duration of action of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) by controlling their degradation rate. PDE6H specifically inhibits the cone-specific cGMP phosphodiesterase, a tetramer composed of two catalytic chains (alpha and beta) and two inhibitory chains (gamma). This protein is primarily found in the retina and plays a crucial role in transmitting and amplifying visual signals. Mutations in PDE6H have been linked to retinal cone dystrophy type 3A.
Description
Recombinant PDE6H Human, produced in E. coli, is a single, non-glycosylated polypeptide chain. It consists of 106 amino acids (with amino acids 1-83 being part of the PDE6H sequence) and has a molecular mass of 11.5 kDa. For purification purposes, a 23 amino acid His-tag is fused to the N-terminus. The protein is purified using proprietary chromatographic techniques.
Physical Appearance
A clear, colorless solution that has been sterilized by filtration.
Formulation
The PDE6H protein solution has a concentration of 0.5 mg/ml and is supplied in a buffer containing 20mM Tris-HCl (pH 8.0), 0.2M NaCl, 40% glycerol, 2mM DTT, and 0.1mM PMSF.
Stability
For short-term storage (up to 4 weeks), the product can be stored at 4°C. For extended storage, it is recommended to freeze the product at -20°C. The addition of a carrier protein such as HSA or BSA (0.1%) is advisable for long-term storage. Repeated freezing and thawing of the product should be avoided.
Purity
The purity of the PDE6H protein is determined by SDS-PAGE analysis and is greater than 80%.
Synonyms
Phosphodiesterase 6H, CGMP-Specific, Cone, Gamma, Retinal Cone Rhodopsin-Sensitive CGMP 3',5'-Cyclic Phosphodiesterase, Subunit Gamma, EC 3.1.4.35, EC 3.1.4.17, RCD3, GMP-PDE Gamma, ACHM6, PDE6H.
Source
Escherichia Coli.
Amino Acid Sequence
MGSSHHHHHH SSGLVPRGSH MGSMSDNTTL PAPASNQGPT TPRKGPPKFK QRQTRQFKSK PPKKGVKGFG DDIPGMEGLG TDITVICPWE AFSHLELHEL AQFGII.

Product Science Overview

Structure and Function

PDE6H is part of a tetrameric complex composed of two catalytic chains (alpha and beta) and two inhibitory chains (gamma). The gamma subunit, encoded by the PDE6H gene, plays a vital role in regulating the activity of the catalytic subunits by inhibiting their function in the absence of light. This regulation is essential for the proper transmission and amplification of visual signals in the retina .

Expression and Localization

The PDE6H gene is specifically expressed in the retina, where it is involved in the phototransduction pathway. Phototransduction is the process by which light is converted into electrical signals in the photoreceptor cells of the retina. The gamma subunit of PDE6H is particularly important in cone cells, which are responsible for color vision and function best in bright light conditions .

Clinical Significance

Mutations in the PDE6H gene have been associated with retinal cone dystrophy type 3A (RCD3A) and achromatopsia. RCD3A is a condition characterized by the progressive loss of cone photoreceptor function, leading to decreased visual acuity and color vision defects. Achromatopsia is a condition where individuals have little to no color vision and experience photophobia and nystagmus .

Research and Applications

Human recombinant PDE6H is used in various research applications to study its role in visual signal transduction and its involvement in retinal diseases. Recombinant proteins are produced through genetic engineering techniques, allowing researchers to investigate the protein’s structure, function, and interactions in a controlled environment .

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