| Gene Symbol |
PRPH2
|
| Entrez Gene |
5961
|
| Alt Symbol |
AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
peripherin 2 (retinal degeneration, slow)
|
| Other Description |
peripherin 2, homolog of mouse|peripherin, photoreceptor type|peripherin-2|retinal degeneration slow protein|retinal peripherin|tetraspanin-22|tspan-22
|
| Swissprots |
Q6DK65 Q5TFH5 P23942
|
| Accessions |
AAA16958 AAB31191 EAX04098 P23942 BC074720 AAH74720 DQ426889 DQ579716 M62958 M73531 AAA60260 XR_427834 XR_926295 NM_000322 NP_000313
|
| Function |
May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis.
|
| Subcellular Location |
Membrane; Multi-pass membrane protein.
|
| Tissue Specificity |
Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.
|