Preferred Label : CLCN5 wt Allele;
NCIt synonyms : DENTS; NPHL2; CLC5; Chloride Channel 5 Gene; CLCK2; Chloride Voltage-Gated Channel 5 wt Allele; ClC-5; DENT1; Chloride Channel, Voltage-Sensitive 5 Gene; Dent Disease Gene; XRN; Nephrolithiasis 2, X-Linked Gene; Nephrolithiasis 1 (X-Linked) Gene; hCIC-K2; Chloride Channel, Voltage-Gated, K2 Gene; XLRH; NPHL1;
NCIt definition : Human CLCN5 wild-type allele is located in the vicinity of Xp11.23 and is approximately
177 kb in length. This allele, which encodes H( )/Cl(-) exchange transporter 5 protein,
is involved in ion transport, acidification of the endosome lumen and renal tubular
function. Mutation of the gene is associated with Dent disease 1, X-linked recessive
hypophosphatemic rickets, X-linked recessive nephrolithiasis with renal failure and
low molecular weight proteinuria with hypercalciuric nephrocalcinosis.;
NCIt note : The A2 gene (CLCA family) at 1p31-p22 produces a 3.6 kb transcript in trachea and
mammary gland, in addition to lung. The encoded Calcium-Activated Chloride Channel-2
is 51% identical to human CLCA1 and displays an outward rectifying conductance of
anions.;
NCI Metathesaurus CUI : CL1905142;
GenBank Accession Number : X91906;
Origin ID : C191826;
UMLS CUI : C5780743;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_plays_role_in_process
