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Solute Carrier Family 4, Member 11 (SLC4A11)

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CHED2; NABC1; BTR1; Bicarbonate transporter-related protein 1; Sodium borate cotransporter 1; Sodium Bicarbonate Transporter-Like Protein 11; Corneal Endothelial Dystrophy 2

Solute Carrier Family 4, Member 11 (SLC4A11)
CCC E366
HGNC 16438
MGI 2138987
PubMed 23942972
RGD 1310188
UniProt Q8NBS3
Wiki SLC4A11
SLC4A11 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.Transporter involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter.Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Solute Carrier Family 4, Member 11 (SLC4A11) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Solute Carrier Family 4, Member 11 (SLC4A11) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Solute Carrier Family 4, Member 11 (SLC4A11) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Solute Carrier Family 4, Member 11 (SLC4A11) CLIA Kit Customized Service Offer
n/a ELISA Kit for Solute Carrier Family 4, Member 11 (SLC4A11) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Solute Carrier Family 4, Member 11 (SLC4A11) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Solute Carrier Family 4, Member 11 (SLC4A11) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Solute Carrier Family 4, Member 11 (SLC4A11) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Solute Carrier Family 4, Member 11 (SLC4A11) CLIA Kit Customized Service Offer
n/a ELISA Kit for Solute Carrier Family 4, Member 11 (SLC4A11) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Solute Carrier Family 4, Member 11 (SLC4A11) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Solute Carrier Family 4, Member 11 (SLC4A11) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Solute Carrier Family 4, Member 11 (SLC4A11) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Solute Carrier Family 4, Member 11 (SLC4A11) CLIA Kit Customized Service Offer
n/a ELISA Kit for Solute Carrier Family 4, Member 11 (SLC4A11) ELISA Kit Customized Service Offer
  1. "Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney."Biochem. Biophys. Res. Commun. 282:1103-1109(2001) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence and comparative analysis of human chromosome 20." Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "NaBC1 is a ubiquitous electrogenic Na+-coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation."Mol. Cell 16:331-341(2004) [PubMed] [Europe PMC] [Abstract]
  6. "SLC4A11 mutations in Fuchs endothelial corneal dystrophy."Hum. Mol. Genet. 17:656-666(2008) [PubMed] [Europe PMC] [Abstract]
  7. "Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations."Hum. Mutat. 33:419-428(2012) [PubMed] [Europe PMC] [Abstract]
  8. "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)."Nat. Genet. 38:755-757(2006) [PubMed] [Europe PMC] [Abstract]
  9. "Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online."Hum. Mutat. 28:522-523(2007) [PubMed] [Europe PMC] [Abstract]
  10. "Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11."J. Med. Genet. 44:64-68(2007) [PubMed] [Europe PMC] [Abstract]
  11. "Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy."J. Med. Genet. 44:322-326(2007) [PubMed] [Europe PMC] [Abstract]
  12. "Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy."Mol. Vis. 13:1327-1332(2007) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy."Arch. Ophthalmol. 126:700-708(2008) [PubMed] [Europe PMC] [Abstract]
  14. "Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia."Invest. Ophthalmol. Vis. Sci. 50:4142-4145(2009) [PubMed] [Europe PMC] [Abstract]
  15. "Novel human pathological mutations. Gene symbol: SLC4A11. Disease: Corneal endothelial dystrophy 2."Hum. Genet. 127:110-110(2010) [PubMed] [Europe PMC] [Abstract]
  16. "Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya."Hum. Mutat. 31:1261-1268(2010) [PubMed] [Europe PMC] [Abstract]
  17. "SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria."J. Biol. Chem. 285:14467-14474(2010) [PubMed] [Europe PMC] [Abstract]
  18. "Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort."Mol. Vis. 16:2955-2963(2010) [PubMed] [Europe PMC] [Abstract]