Retinoschisin, Recombinant Protein

X-linked juvenile retinoschisis protein

For Research Use Only. Not for use in diagnostic procedures.

E Coli

Greater than 90% as determined by SDS-PAGE.

20mM Tris-HCl based buffer, pH8.0

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C. Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.

Small volumes of XLRS1 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

May be active in cell adhesion processes during retinal development.

27.1kD

retinoschisin 1

retinoschisin

Retinoschisin

XLRS1  [Similar Products]

This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]

RS1: a highly conserved extracellular protein essential for proper retinal structure. Must interact with L-type voltage-gated calcium channels (L-VGCCs) correctly so that the photoreceptor cells in the eye can function properly. Genetic mutations in RS1 cause X-linked retinoschisis (XLRS) and early onset of macular degeneration. Interacts with the L-VGCCa1D subunit, regulating its activity. The expression and secretion of retinoschisin are modulated by circadian rhythms, peaking at night and diminishing during the day.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: Xp22.13

Cellular Component: extracellular space

Molecular Function: phosphatidylserine binding

Biological Process: multicellular organismal development; protein homooligomerization; visual perception

Disease: Retinoschisis 1, X-linked, Juvenile

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