7dwx
From Proteopedia
Conformation 1 of S-ACE2-B0AT1 ternary complex
Structural highlights
DiseaseS6A19_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
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Categories: Homo sapiens | Large Structures | Severe acute respiratory syndrome coronavirus 2 | Chi XM | Guo YY | Li YN | Xia L | Yan RH | Ye FF | Zhang YY | Zhong XY | Zhou Q
