8wk6

Structural highlights

Disease

SLC31_HUMAN Cystinuria type A;2p21 microdeletion syndrome;Atypical hypotonia-cystinuria syndrome;Hypotonia-cystinuria syndrome. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. Hypotonia-cystinuria syndrome is a contiguous gene syndrome caused by a homozygous deletion on chromosome 2p21 that disrupts the gene represented in this entry and PREPL (PubMed:16385448, PubMed:21686663). A homozygous 77.4-kb deletion that disrupts the gene represented in this entry, PREPL, and CAMKMT, causes atypical hypotonia-cystinuria syndrome, characterized by mild to moderate mental retardation and respiratory chain complex IV deficiency (PubMed:21686663).^{[1] [2]}

Function

SLC31_HUMAN Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule.^{[3] [4] [5] [6]}

References

1. ↑ Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet. 2006 Jan;78(1):38-51. Epub 2005 Nov 23. PMID:16385448 doi:http://dx.doi.org/S0002-9297(07)60804-0
2. ↑ Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW. Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. BMJ Case Rep. 2009;2009. pii: bcr08.2008.0719. doi: 10.1136/bcr.08.2008.0719., Epub 2009 Feb 2. PMID:21686663 doi:http://dx.doi.org/10.1136/bcr.08.2008.0719
3. ↑ Mizoguchi K, Cha SH, Chairoungdua A, Kim DK, Shigeta Y, Matsuo H, Fukushima J, Awa Y, Akakura K, Goya T, Ito H, Endou H, Kanai Y. Human cystinuria-related transporter: localization and functional characterization. Kidney Int. 2001 May;59(5):1821-33. PMID:11318953 doi:http://dx.doi.org/kid686
4. ↑ Bertran J, Werner A, Chillaron J, Nunes V, Biber J, Testar X, Zorzano A, Estivill X, Murer H, Palacin M. Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes. J Biol Chem. 1993 Jul 15;268(20):14842-9. PMID:7686906
5. ↑ Lee WS, Wells RG, Sabbag RV, Mohandas TK, Hediger MA. Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. J Clin Invest. 1993 May;91(5):1959-63. doi: 10.1172/JCI116415. PMID:8486766 doi:http://dx.doi.org/10.1172/JCI116415
6. ↑ Miyamoto K, Segawa H, Tatsumi S, Katai K, Yamamoto H, Taketani Y, Haga H, Morita K, Takeda E. Effects of truncation of the COOH-terminal region of a Na+-independent neutral and basic amino acid transporter on amino acid transport in Xenopus oocytes. J Biol Chem. 1996 Jul 12;271(28):16758-63. PMID:8663184