Solute Carrier Family 4 (Sodium Borate Cotransporter), Member 11

Alternative Names

  • SLC4A11
  • Bicarbonate Transporter-Related Protein 1
  • BTR1
  • Sodium-Coupled Borate Cotransporter 1
  • NABC1

Associated Diseases

Corneal Endothelial Dystrophy
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OMIM Number

610206

Gene Map Locus
20p13

Description

Sodium bicarbonate transporter?like solute carrier family 4 member 11 (SLC4A11) is a member of the SLC4 family of bicarbonate transporters that are the main bicarbonate transporter proteins along with the SLC26 family in humans. The SLC4 family consists of 11 members that function differently and play an essential role in the transport of HCO3. The family includes three types of bicarbonate exchangers; Cl?HCO3 exchangers, Na/HCO3 cotransporters and Na?driver Cl?HCO3 exchangers. The SLC4A11 gene encodes a ubiquitous electrogenic sodium-coupled borate transporter (also called BTR1 or NABC1), which is essential for borate homeostasis, cell growth, and cell proliferation. The gene is highly expressed in the eye, blood cells, ovary, tongue, lung, skin, colon, and to a lesser extent in the brain, pancreas, kidney and skin. Also it is expressed in some tumors, such as: gastrointestinal, oral, ovarian, respiratory, and skin tumors, as well as in leukemia and retinoblastoma.

Molecular Genetics

The SLC4A11 gene is on chromosome 20p12. It has 19 coding exons and spans about 12 kb in length. Mutations in this gene are the cause of Dystrophy Fuchs Endothelial Type 4 (FECD4), Corneal Dystrophy and Perceptive Deafness (CDPD), and Corneal Endothelial Dystrophy Type 2 (CHED2). About 62 SLC4A11 mutations have been identified in 92 families with CHED2 and six families with Harboyan syndrome.

Epidemiology in the Arab World

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Other Reports

Qatar

Chai et al. (2010) identified a novel missense mutation (p.G394R) in the SLC4A11 gene in a consanguineous Qatari family affected with recessive congenital hereditary endothelial dystrophy (CHED2).

Saudi Arabia

Shah et al. (2008) studied nine members of a Saudi family with autosomal recessive CHED for disease-causing mutations in the SLC4A11 gene. A novel, homozygous mutation in the SLC4A11 gene (p.Thr271Met) was detected in the proband and all affected members of the family. This mutation was not detected in a cohort of 99 normal control subjects. Shah et al. (2008) speculated that the p.Thr271Met mutation alters a highly conserved amino acid in the encoded SLC4A11 protein.

On the other hand, Aldahmesh et al. (2009) studied

the extent of allelic heterogeneity in congenital hereditary endothelial dystrophy in 10 patients representing seven unrelated, but consanguineous, families. All 10 patients were homozygous at the SLC4A11 locus. Seven mutations were identified, five of which are novel. The mutation spectrum included missense [c.1228GT), splice site (c.2114+1G>A), and small deletions [one out-of-frame (c.520delGCTTCGCC resulting in a premature termination atAsp164X, and one intronic deletion (c.1044+25del19nt)]. All mutations were predicted to result in reduction or loss of bicarbonate transporter-related protein 1 (BTR1) and they were absent in a control population of the same ethnic origin. Aldahmesh et al. (2009) also identified one silent variant (p.Thr833Thr) that most likely represented a previously unreported rare SNP. Aldahmesh et al. (2009) concluded that there was no evidence of a genetic heterogeneity in CHED in Saudis and that loss of BTR1 function is the most likely mutational mechanism causing the disease in the population.

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