Psychiatry related information on CLDN14

• We identified a transcribed SNP (tSNP), c.68G-->A, present in a novel untranslated exon of the CLDN14 gene in a male patient with mental retardation who had a balanced t(13;21) chromosomal translocation [1].

High impact information on CLDN14

• The essential function of one of these claudins in the inner ear was established by identifying mutations in CLDN14 that cause nonsyndromic recessive deafness DFNB29 in two large consanguineous Pakistani families [2].
• Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29 [2].
• In situ hybridization and immunofluorescence studies demonstrated mouse claudin-14 expression in the sensory epithelium of the organ of Corti [2].
• In this junction, claudins partition into claudin-14 and claudin-9/6 subdomains that are distinguishable by strand morphology, which contrasts with in vitro data that most claudins co-assemble into heteromeric strands [3].
• We observed that [(3)H]-palmitic acid was incorporated into claudin-14 expressed by transfection in both cultured epithelial cells and fibroblasts [4].

Biological context of CLDN14

• We further identified hitherto undescribed exons of CLDN14 that are utilized in alternative spliced transcripts [5].
• We determined an allelic loss of expression of the CLDN14 gene isoform at the 21q22.1 chromosomal breakpoint [1].
• We previously reported that expression of claudin-14 in epithelial monolayers results in a fivefold increase in electrical resistance [4].

Anatomical context of CLDN14

• To investigate this mechanism, we compared the ability of wild-type and missense mutant CLDN14 to form tight junctions [5].

Associations of CLDN14 with chemical compounds

• Claudin-14, like other members of the claudin family, contains membrane-proximal cysteines following both the second and the fourth transmembrane domains, which we speculated could be modified by S-acylation with palmitic acid [4].

Other interactions of CLDN14

• Alterations in the GJB3 and CLDN14 genes in families with nonsyndromic sensorineural hearing loss [6].

References