Gene: [02p163/SLC3A1] solute carrier family 3, member 1; cystine, dibasic and neutral amino acid transport, activator ATR1; cystinuria, type I (MIM:220100); [ATR1 D2H ]
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COM |
The SLC3A1 gene encodes a transport protein for cystine and the dibasic amino acids. Yan-1994 and Zhang-1994 assigned the SLC3A1 gene to Chr 2p21. Calonge-1995a,b mapped the gene to Chr 2p16.3." |
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CAG |
About cystinuria, type III see GEM:19q131/CSNU3. |
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REL |
GEM:00.0/SLC3A2. |
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REF |
MUT "Bisceglia L &: Hum Genet, 98, N4, 447-451, 1996 LOC "Calonge MJ &: PNAS, 92, N21, 9667-9671, 1995a LOC "Calonge MJ &: Hum Genet, 95, N6, 633-636, 1995b MUT "Calonge MJ &: Nature Genet, 6, N4, 420-425, 1994 SEQ,GEN "Pras E &: Genomics, 36, N1, 163-167, 1996 MUT "Pras E &: Hum Genet, 56, N6, 1297-1303, 1995 SEQ,GEN "Purroy J &: Genomics, 37, N2, 249-252, 1996 LOC "Yan N &: PNAS, 91, 7548-7552, 1994 LOC "Zhang X-X &: Genomics, 24, 413-414, 1994 |
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KEY |
aac, mtbd, trp |
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CLA |
coding, basic |
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LOC |
02 p16.3 |
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MIM |
MIM: 104614 |
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SYN |
ATR1 D2H |
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