Transporter for dibasic amino acids
The SLC3A2 gene encodes an amino acid transporter for neutral and dibasic amino acids which is present in the kidney, but whose clinical impact has yet to be determined.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Rochelle JM et al. (1992) A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus.
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2. |
Cantor J et al. (2011) Loss of T cell CD98 H chain specifically ablates T cell clonal expansion and protects from autoimmunity.
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3. |
Fogelstrand P et al. (2009) Dependence of proliferative vascular smooth muscle cells on CD98hc (4F2hc, SLC3A2).
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4. |
Feral CC et al. (2005) CD98hc (SLC3A2) mediates integrin signaling.
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5. |
Sato H et al. (1999) Cloning and expression of a plasma membrane cystine/glutamate exchange transporter composed of two distinct proteins.
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6. |
Mastroberardino L et al. (1998) Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family.
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7. |
Haynes BF et al. (1981) Characterization of a monoclonal antibody (4F2) that binds to human monocytes and to a subset of activated lymphocytes.
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8. |
Francke U et al. (1983) Chromosome mapping of human cell surface molecules: monoclonal anti-human lymphocyte antibodies 4F2, A3D8, and A1G3 define antigens controlled by different regions of chromosome 11.
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9. |
Peters PG et al. (1982) Genetic and biochemical characterization of a human surface determinant on somatic cell hybrids: the 4F2 antigen.
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10. |
Hemler ME et al. (1982) Characterization of antigen recognized by the monoclonal antibody (4F2): different molecular forms on human T and B lymphoblastoid cell lines.
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11. |
Posillico JT et al. (1987) Binding of monoclonal antibody (4F2) to its cell surface antigen on dispersed adenomatous parathyroid cells raises cytosolic calcium and inhibits parathyroid hormone secretion.
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12. |
Lumadue JA et al. (1987) Cloning, sequence analysis, and expression of the large subunit of the human lymphocyte activation antigen 4F2.
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13. |
Quackenbush E et al. (1987) Molecular cloning of complementary DNAs encoding the heavy chain of the human 4F2 cell-surface antigen: a type II membrane glycoprotein involved in normal and neoplastic cell growth.
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14. |
Lindsten T et al. (1988) Regulation of 4F2 heavy-chain gene expression during normal human T-cell activation can be mediated by multiple distinct molecular mechanisms.
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15. |
Gottesdiener KM et al. (1988) Isolation and structural characterization of the human 4F2 heavy-chain gene, an inducible gene involved in T-lymphocyte activation.
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16. |
Michalak M et al. (1986) Inhibition of Na+/Ca2+ exchanger activity in cardiac and skeletal muscle sarcolemmal vesicles by monoclonal antibody 44D7.
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17. |
Courseaux A et al. (1996) Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1).
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18. |
NCBI article
NCBI 6520
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19. |
OMIM.ORG article
Omim 158070
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20. |
Wikipedia article
Wikipedia EN (SLC3A2)
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Update: Aug. 14, 2020