| Gene Symbol |
BEST1
|
| Entrez Gene |
7439
|
| Alt Symbol |
ARB, BEST, BMD, RP50, TU15B, VMD2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
bestrophin 1
|
| Other Description |
Best disease|Best1V1Delta2|bestrophin-1|vitelliform macular dystrophy protein 2
|
| Swissprots |
Q8IZ80 Q8IUR9 O75904 A8K0W6 B7Z736 B7Z3J8 Q53YQ9 O76090
|
| Accessions |
AAC64926 EAW73982 EAW73983 EAW73984 EAW73985 EAW73986 EAW73987 EAW73988 O76090 AB209451 BAD92688 AF057169 AAC64343 AF057170 AAC64344 AF073501 AAC33766 AK289681 BAF82370 AK293701 BAH11574 AK294577 BAH11817 AK295450 BAH12072 AK295580 BAH12111 AK295838 BAH12198 AK295998 BAH12234 AK298747 BAH12865 AK301392 BAH13472 AK309076 AY515704 AAR99654 BC015220 AAH15220 BC041664 AAH41664 CA388926 JQ954696 AFR11385 XM_005274210 XP_005274267 XM_005274215 XP_005274272 XM_005274216 XP_005274273 XM_005274218 XP_005274275 XM_005274219 XP_005274276 XM_005274221 XP_005274278 XM_011545229 XP_011543531 XM_011545230 XP_011543532 XM_011545231 XP_011543533 XM_011545232 XP_011543534 XM_011545233 XP_011543535 NM_001139443 NP_001132915 NM_001300786 NP_001287715 NM_001300787 NP_001287716 NM_004183 NP_004174
|
| Function |
Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. {ECO:0000269|PubMed:11904445, ECO:0000269|PubMed:12907679, ECO:0000269|PubMed:18400985}.
|
| Subcellular Location |
Cell membrane {ECO:0000269|PubMed:19853238}; Multi-pass membrane protein {ECO:0000269|PubMed:19853238}. Basolateral cell membrane {ECO:0000269|PubMed:19853238}.
|
| Tissue Specificity |
Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.
|
