SLC4A11 solute carrier family 4 member 11

Gene ID: 83959, updated on 3-Apr-2024
Gene type: protein coding
Also known as: BTR1; CHED; CDPD1; CHED2; NABC1; dJ794I6.2

Summary

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital hereditary endothelial dystrophy of cornea MedGen: C1857569OMIM: 217700GeneReviews: Not available	See labs
Corneal dystrophy, Fuchs endothelial, 4 MedGen: C2750450OMIM: 613268GeneReviews: Not available	See labs
Corneal dystrophy-perceptive deafness syndrome MedGen: C1857572OMIM: 217400GeneReviews: Not available	See labs

Genomic context

Location:: 20p13

Sequence:: Chromosome: 20; NC_000020.11 (3227417..3239559, complement)

Total number of exons:: 24

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SLC4A11 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SLC4A11 database
Variation Viewer
Related Variants

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