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Cat No | BSPA-1230 |
Conjugate | |
Type | Polyclonal Antibody |
Source | Rabbit |
Size | 1 mg |
Application | ELISA; WB; IHC |
Format | Liquid |
Concentration | Please refer to the vial lable for the specific concentration. |
Buffer | Supplied in PBS. |
Species | Human |
Storage | Store at -20 degree. Avoid repeted freeze/thaw cycl. |
Synonyms | BEST1;ARB;BMD;BEST;RP50;VMD2;TU15B;Best1V1Delta2 |
Purification | |
Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
MolecularWeight | |
Description | |
Background | This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy , also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms. |