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Search references for CLCN5. Phrases containing CLCN5
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Mammalian protein found in humans
H+/Cl- exchange transporter 5 is a protein that in humans is encoded by the CLCN5 gene. The chloride channel Cl-/H+ exchanger is mainly expressed in the kidney
CLCN5
Medical condition
low-molecular-weight proteinuria. About 60% of patients have mutations in the CLCN5 gene (Dent 1), which encodes a kidney-specific chloride/proton antiporter
Dent's_disease
Class of chemical compounds
seven of the eight males with inactivated CLCN5 gene that participated in the study. Inactivation of the CLCN5 gene causes Dent's disease type 1. The rare
Thiazide
ATP2A2 1:30,000-100,000 Dent's disease (Genetic hypercalciuria) Xp11.22 CLCN5, OCRL Denys–Drash syndrome WT1 De Grouchy syndrome 18q D Dolichonychia Down
List_of_genetic_disorders
Class of transport proteins
low molecular weight proteinuria and hypercalciuria where mutations in CLCN5 are implicated. Thomsen disease is associated with dominant mutations and
Chloride_channel
Medical condition
↑glycosuria Dent's disease (X-linked recessive hypophophatemic rickets)[300009] CLCN5 Xp11.22 XR Nephrocalcinosis, nephrolithiasis, rachitic and osteomalacic
Tubulopathy
Protein-coding gene in the species Homo sapiens
heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations". Pediatr. Nephrol. 24 (10): 1967–73. doi:10.1007/s00467-009-1228-4
OCRL
which is attributed to a mutation in CLCN5 or OCRL1 genes. However, IH patients have not been detected to carry the CLCN5 mutation. The objective of treating
Idiopathic_hypercalcinuria
Academic nephrologist
and colleagues who determined that mutation of the chloride channel gene CLCN5 was the cause of many, though not all, of these disorders including one
Oliver_Wrong
HGNC:2020; P51788 3101 CLCN3 HGNC:2021; P51790 3102 CLCN4 HGNC:2022; P51793 3103 CLCN5 HGNC:2023; P51795 3104 CLCN6 HGNC:2024; P51797 3105 CLCN7 HGNC:2025; P51798
List of human protein-coding genes 2
List_of_human_protein-coding_genes_2
Index of articles on biophysics
CHRND CHRNE CHRNG CLCA1 CLCA2 CLCA3 CLCA4 CLCC1 CLCN1 CLCN2 CLCN3 CLCN4 CLCN5 CLCN6 CLCN7 CLCNKA CLCNKB CLIC1 CLIC2 CLIC3 CLIC4 CLIC5 CLIC6 CLNS1A CLNS1B
Index_of_biophysics_articles
Protein domain
can lead to idiopathic generalised epilepsy (OMIM: 600699), mutations in CLCN5 can lead to Dent's disease (OMIM: 300009), mutations in CLCN7 can lead to
CBS_domain
body; 127750; SNCB Dent's disease 2; 300555; OCRL Dent's disease; 300009; CLCN5 Dentatorubr–pallidoluysian atrophy; 125370; ATN1 Dentin dysplasia, type
List_of_OMIM_disorder_codes
CLCN5
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Surname or Lastname
English
English : habitational name from a place named with Old Norse vað ‘ford’, such as Waithe in Lincolnshire, or Wath in North and West Yorkshire. Compare Wade.
Girl/Female
Teutonic
Rich.
Boy/Male
Anglo Saxon English
Blond.
Boy/Male
Arabic, Muslim
Intelegent
Boy/Male
Indian
Perceived
Boy/Male
Australian, Hindu, Indian, Marathi
Hero
Boy/Male
Tamil
Continuous
Boy/Male
Indian, Punjabi, Sikh
Highest Worship
Girl/Female
Tamil
Boy/Male
Hindu
Smile
CLCN5
CLCN5
CLCN5
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