CLDN19 gene

claudin 19

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.

From NCBI Gene:

  • Hypomagnesemia 5, renal, with ocular involvement

From UniProt:

Hypomagnesemia 5 (HOMG5): 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. [MIM:248190]

Cytogenetic Location: 1p34.2, which is the short (p) arm of chromosome 1 at position 34.2

Molecular Location: base pairs 42,733,093 to 42,740,254 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p34.2, which is the short (p) arm of chromosome 1 at position 34.2