중탄산나트륨수송체양단백질11 Sodium bicarbonate transporter-like protein 11
중탄산나트륨 수송체상 단백질 11 은 SLC4A11 [5] [6] [7] [8] 단백질 이다.
「 」를 참조해 주세요. 레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00008836 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000074796 - 앙상블 , 2017년 5월^ "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" .
추가 정보 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. 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. 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 .
그룹별
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):
