background:
The Bestrophins are a newly described family of anion channels unrelated in primary sequence to any previously characterized channel proteins. Bestrophins were originally defined as a family of over 20 related sequences of the C. elegans. The first mammalian Bestrophin was identified as the vitelliform macular dystrophy (VMD), 1 also known as Best disease. Three more members of the bestrophin family members were cloned and indentified recently, Bestrophin 2, 3 and 4. RT PCR analyses revealed tissue restricted expression of the three genes with both Bestrophin 1 and Bestrophin 2 are abundantly transcribed in colon. Functionally the bestrophines oligomerise to form tetramers and pentamers in order to act as calcium sensitive chloride channels. It has been shown that Bestrophin interacts with beta catalytic subunit of protein phosphatase 2A (PP2Ac). Such protein protein interaction between Bestrophin and PP2Ac and the structural subunit of PP2A, PR65, was confirmed by reciprocal immunoprecipitation. The interaction between PP2Ac and the Bestrophin takes place near the carboxy terminal end of the protein.
Function:
Forms calcium-sensitive chloride channels. Permeable to bicarbonate.
Subcellular Location:
Cell membrane; Multi-pass membrane protein.
Tissue Specificity:
Mainly confined to the retinal pigment epithelium and colon.
Similarity:
Belongs to the bestrophin family.
Database links:
Entrez Gene: 54831 Human
Entrez Gene: 212989 Mouse
Entrez Gene: 364973 Rat
Omim: 607335 Human
SwissProt: Q8NFU1 Human
SwissProt: Q6H1U9 Mouse
SwissProt: Q8BGM5 Mouse
Unigene: 435611 Human
Unigene: 215154 Mouse
Unigene: 31577 Mouse
Unigene: 136565 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
