Claudin-19 rabbit polyclonal, anti-human, rat

Backgroud: 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],disease:Defects in CLDN19 are the cause of hypomagnesemia renal with ocular involvement (HOMGO) [MIM:248190]. 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. The renal phenotype is virtually undistinguishable from that of patients with HOMG3 with proven CLDN16 mutations.,function:Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.,similarity:Belongs to the claudin family.,

Synonyms: CLDN19, Claudin-19

Gene Name: CLDN19

Gene ID: 149461

SwissProt ID: Q8N6F1

Purification: Affinity purification

Storage: Store at 4°C short term. Aliquot and store at -20°C for 12 months. Avoid freeze/thaw cycles.