From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Sodium bicarbonate transporter-like protein 11 is a
protein that in humans is encoded by the SLC4A11
gene .
[5]
[6]
[7]
[8]
See also
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000088836 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000074796 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Luong A, Hannah VC, Brown MS, Goldstein JL (Sep 2000).
"Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins" . J Biol Chem . 275 (34): 26458–66.
doi :
10.1074/jbc.M004160200 .
PMID
10843999 .
^ Parker MD, Ourmozdi EP, Tanner MJ (Apr 2001). "Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney". Biochem Biophys Res Commun . 282 (5): 1103–9.
doi :
10.1006/bbrc.2001.4692 .
PMID
11302728 .
^ Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T (Jun 2006). "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)". Nat Genet . 38 (7): 755–7.
doi :
10.1038/ng1824 .
PMID
16767101 .
S2CID
11112294 .
^
"Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11" .
Further reading
Bonaldo MF, Lennon G, Soares MB (1997).
"Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806.
doi :
10.1101/gr.6.9.791 .
PMID
8889548 .
Callaghan M, Hand CK, Kennedy SM, et al. (1999).
"Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct" . The British Journal of Ophthalmology . 83 (1): 115–9.
doi :
10.1136/bjo.83.1.115 .
PMC
1722772 .
PMID
10209448 .
Hand CK, Harmon DL, Kennedy SM, et al. (1999). "Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping". Genomics . 61 (1): 1–4.
doi :
10.1006/geno.1999.5920 .
PMID
10512674 .
Deloukas P, Matthews LH, Ashurst J, et al. (2002).
"The DNA sequence and comparative analysis of human chromosome 20" . Nature . 414 (6866): 865–71.
Bibcode :
2001Natur.414..865D .
doi :
10.1038/414865a .
PMID
11780052 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2003).
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
Moroi SE, Gokhale PA, Schteingart MT, et al. (2003). "Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy". Am. J. Ophthalmol . 135 (4): 461–70.
CiteSeerX
10.1.1.582.4887 .
doi :
10.1016/S0002-9394(02)02032-9 .
PMID
12654361 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004).
"Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5.
doi :
10.1038/ng1285 .
PMID
14702039 .
Park M, Li Q, Shcheynikov N, et al. (2004).
"NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation" . Mol. Cell . 16 (3): 331–41.
doi :
10.1016/j.molcel.2004.09.030 .
PMID
15525507 .
Jiao X, Sultana A, Garg P, et al. (2007).
"Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11" . J. Med. Genet . 44 (1): 64–8.
doi :
10.1136/jmg.2006.044644 .
PMC
2597914 .
PMID
16825429 .
Desir J, Moya G, Reish O, et al. (2007).
"Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy" . J. Med. Genet . 44 (5): 322–6.
doi :
10.1136/jmg.2006.046904 .
PMC
2597979 .
PMID
17220209 .
Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS (2007).
"Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11" . Mol. Vis . 13 : 39–46.
PMC
2503190 .
PMID
17262014 .
Ramprasad VL, Ebenezer ND, Aung T, et al. (2007).
"Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online" . Hum. Mutat . 28 (5): 522–3.
doi :
10.1002/humu.9487 .
PMID
17397048 .
S2CID
2980020 .
Aldave AJ, Yellore VS, Bourla N, et al. (2007). "Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11". Cornea . 26 (7): 896–900.
doi :
10.1097/ICO.0b013e318074bb01 .
PMID
17667634 .
S2CID
20814910 .
Sultana A, Garg P, Ramamurthy B, et al. (2007). "Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy". Mol. Vis . 13 : 1327–32.
PMID
17679935 .
By group
SLC1–10
(1): (2): (3): (4): (5): (6): (7): (8): (9): (10):
SLC11–20
(11): (12): (13): (14): (15): (16): (17): (18): (19): (20):
SLC21–30
(21): (22): (23): (24): (25): (26): (27): (28): (29): (30):
SLC31–40
(31): (32): (33): (34): (35): (36): (37): (38): (39): (40):
SLC41–48
(41): (42): (43): (44): (45): (46): (47): (48):