SLC6A18이라고 도 알려진 솔루트 캐리어 패밀리 6, 멤버 18 은 인간에게 SLC6A18 유전자 에 의해 암호화된 단백질 이다.[5] [6]
함수 SLC6A18을 포함하는 SLC6 단백질군은 베테인, 타우린, 크레아틴과 같은 신경전달물질, 아미노산, 그리고 삼몰리테스의 특정 전달체 역할을 한다. SLC6 단백질은 나트륨 이온의 전기화학적 경사로에서 용액 수송을 위한 에너지를 얻는 나트륨 코트랜스포터다.[6] [7]
임상적 유의성 SLC6A18 유전자의 돌연변이는 이미노글리시누리아 와 관련이 있다.[8]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000164363 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000021612 - 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 .^ Strausberg RL, Feingold EA, Grouse LH, et al. (December 2002). "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 . ^ a b Höglund PJ, Adzic D, Scicluna SJ, Lindblom J, Fredriksson R (October 2005). "The repertoire of solute carriers of family 6: identification of new human and rodent genes". Biochem. Biophys. Res. Commun . 336 (1): 175–89. doi :10.1016/j.bbrc.2005.08.048 . PMID 16125675 . ^ "Entrez Gene: SLC6A18" .^ Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE (November 2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters" . J. Clin. Invest . 118 (12): 3881–92. doi :10.1172/JCI36625 . PMC 2579706 PMID 19033659 . 추가 읽기 Guey LT, García-Closas M, Murta-Nascimento C, et al. (2010). "Genetic susceptibility to distinct bladder cancer subphenotypes" . Eur. Urol . 57 (2): 283–92. doi :10.1016/j.eururo.2009.08.001 . PMC 3220186 PMID 19692168 . Eslami B, Kinboshi M, Inoue S, et al. (2006). "A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese" . Tohoku J. Exp. Med . 208 (1): 25–31. doi :10.1620/tjem.208.25 PMID 16340170 . Singer D, Camargo SM, Huggel K, et al. (2009). "Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3" . J. Biol. Chem . 284 (30): 19953–60. doi :10.1074/jbc.M109.011171 PMC 2740421 PMID 19478081 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . 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 . Kleta R, Romeo E, Ristic Z, et al. (2004). "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder". Nat. Genet . 36 (9): 999–1002. doi :10.1038/ng1405 . PMID 15286787 . S2CID 155361 . Bröer S (2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiol. Rev . 88 (1): 249–86. doi :10.1152/physrev.00018.2006 . PMID 18195088 . Yoon YH, Seol SY, Heo J, et al. (2008). "Analysis of VNTRs in the solute carrier family 6, member 18 (SLC6A18) and lack of association with hypertension". DNA Cell Biol . 27 (10): 559–67. doi :10.1089/dna.2008.0755 . PMID 18554081 . 이 기사는 공공영역 에 있는 미국 국립 의학 도서관 의 텍스트를 통합하고 있다.
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):