Structural highlightsDiseaseS6A19_HUMAN Hartnup disease;Iminoglycinuria. The disease is caused by mutations affecting the gene represented in this entry. The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria. The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.
FunctionS6A19_HUMAN Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:19185582, PubMed:15286788). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:19185582, PubMed:18424768).[1] [2] [3] [4] [5]
See AlsoReferences
- ↑ Seow HF, Broer S, Broer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE. Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nat Genet. 2004 Sep;36(9):1003-7. doi: 10.1038/ng1406. Epub 2004 Aug 1. PMID:15286788 doi:http://dx.doi.org/10.1038/ng1406
- ↑ Kowalczuk S, Broer A, Tietze N, Vanslambrouck JM, Rasko JE, Broer S. A protein complex in the brush-border membrane explains a Hartnup disorder allele. FASEB J. 2008 Aug;22(8):2880-7. doi: 10.1096/fj.08-107300. Epub 2008 Apr 18. PMID:18424768 doi:http://dx.doi.org/10.1096/fj.08-107300
- ↑ Azmanov DN, Kowalczuk S, Rodgers H, Auray-Blais C, Giguere R, Rasko JE, Broer S, Cavanaugh JA. Further evidence for allelic heterogeneity in Hartnup disorder. Hum Mutat. 2008 Oct;29(10):1217-21. doi: 10.1002/humu.20777. PMID:18484095 doi:http://dx.doi.org/10.1002/humu.20777
- ↑ Camargo SM, Singer D, Makrides V, Huggel K, Pos KM, Wagner CA, Kuba K, Danilczyk U, Skovby F, Kleta R, Penninger JM, Verrey F. Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. Gastroenterology. 2009 Mar;136(3):872-82. doi: 10.1053/j.gastro.2008.10.055. Epub, 2008 Oct 29. PMID:19185582 doi:http://dx.doi.org/10.1053/j.gastro.2008.10.055
- ↑ Fairweather SJ, Broer A, Subramanian N, Tumer E, Cheng Q, Schmoll D, O'Mara ML, Broer S. Molecular basis for the interaction of the mammalian amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin. J Biol Chem. 2015 Oct 2;290(40):24308-25. doi: 10.1074/jbc.M115.648519. Epub 2015, Aug 3. PMID:26240152 doi:http://dx.doi.org/10.1074/jbc.M115.648519
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