| Description : |
The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
21.9 kDa |
| AA Sequence : |
MANSGLQLLGYFLALGGWVGIIAST ALPQWKQSSYAGDAIITAVGLYEGL WMSCASQSTGQVQCKLYDSLLALDG HIQSARALMVVAVLLGFVAMVLSVV GMKCTRVGDSNPIAKGRVAIAGGAL FILAGLCTLTAVSWYATLVTQEFFN PSTPVNARYEFGPALFVGWASAGLA VLGGSFLCCTCPEPERPNSSPQPYR PGPSAAAREYVTRTRPLEQKLISEE DLAANDILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
