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Invitrogen
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Immunogen sequence: GDAIITAVGL YEGLWMSCAS QSTGQVQCKL YDSLL
Antigen sequence identity: Mouse 100%; Rat 100%
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. [provided by RefSeq, Jun 2010].
仅用于科研。不用于诊断过程。未经明确授权不得转售。