호모 사피엔스 종의 단백질 코드 유전자
양성자결합아미노산수송체2 는 SLC36A2유전자 에 [5] 의해 인체 내에서 부호화되는 단백질 이다.
기능. SLC36A2는 작은 아미노산(글리신, 알라닌 및 프롤린)과 D-에난티오머를 운반하고 감마-아미노낙산과 [5] [6] 같은 아미노산 유도체를 선택한다.
임상적 의의 SLC36A2 유전자의 돌연변이는 이미노글리신뇨증 과 [7] 관련이 있다.
「 」를 참조해 주세요. 레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000186335 - 앙상블 , 2017년 5월 ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000020264 - 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 . ^ a b Boll M, Foltz M, Rubio-Aliaga I, Daniel H (July 2003). "A cluster of proton/amino acid transporter genes in the human and mouse genomes". Genomics . 82 (1): 47–56. doi :10.1016/S0888-7543(03)00099-5 . PMID 12809675 . ^ Boll M, Foltz M, Rubio-Aliaga I, Kottra G, Daniel H (June 2002). "Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters" . J. Biol. Chem . 277 (25): 22966–73. doi :10.1074/jbc.M200374200 . PMID 11959859 . ^ Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE (December 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 정보 Bermingham JR, Pennington J (2004). "Organization and expression of the SLC36 cluster of amino acid transporter genes". Mamm. Genome . 15 (2): 114–25. doi :10.1007/s00335-003-2319-3 . PMID 15058382 . S2CID 21418124 . Trynka G, Zhernakova A, Romanos J, et al. (2009). "Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling" . Gut . 58 (8): 1078–83. doi :10.1136/gut.2008.169052 . PMID 19240061 . S2CID 17111427 . Strausberg RL, Feingold EA, Grouse LH, et al. (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 . 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 . Koskinen LL, Einarsdottir E, Korponay-Szabo IR, et al. (2009). "Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations". Tissue Antigens . 74 (5): 408–16. doi :10.1111/j.1399-0039.2009.01359.x . PMID 19845895 . Rubio-Aliaga I, Boll M, Vogt Weisenhorn DM, et al. (2004). "The proton/amino acid cotransporter PAT2 is expressed in neurons with a different subcellular localization than its paralog PAT1" . J. Biol. Chem . 279 (4): 2754–60. doi :10.1074/jbc.M305556200 . PMID 14600155 .
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):