SLC6A19
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| Solute carrier family 6 (neutral amino acid transporter), member 19 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | SLC6A19 ; B0AT1; HND | ||||||||||||
| External IDs | OMIM: 608893 MGI: 1921588 HomoloGene: 52819 IUPHAR: 939 GeneCards: SLC6A19 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 340024 | 74338 | |||||||||||
| Ensembl | ENSG00000174358 | ENSMUSG00000021565 | |||||||||||
| UniProt | Q695T7 | Q9D687 | |||||||||||
| RefSeq (mRNA) | NM_001003841 | NM_028878 | |||||||||||
| RefSeq (protein) | NP_001003841 | NP_083154 | |||||||||||
| Location (UCSC) | Chr 5: 1.2 – 1.23 Mb |
Chr 13: 73.68 – 73.7 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Solute carrier family 6 member 19 also known as the sodium-dependent neutral amino acid transporter B(0)AT1 or system B(0) neutral amino acid transporter AT1 is a protein that in humans is encoded by the SLC6A19 gene.[1]
Function
SLC6A19 is a system B(0) transporter that mediates epithelial resorption of neutral amino acids across the apical membrane in the kidney and intestine.[2][3]
Clinical significance
Mutations in the SLC6A19 gene cause Hartnup disease.[1][4]
References
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