Equilibrative nucleoside transporter 1: Difference between revisions
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== Interactive pathway map == |
== Interactive pathway map == |
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{{FluoropyrimidineActivity WP1601|highlight=Equilibrative_nucleoside_transporter_1}} |
{{FluoropyrimidineActivity WP1601|highlight=Equilibrative_nucleoside_transporter_1}} |
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==Clinical== |
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Mutations in this gene have been associated with [[H syndrome]], [[pigmented hypertrichosis]] with insulin dependent diabetes and [[Faisalabad histiocytosis]].<ref name=Bolze2012>Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF, Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL (2012) A mild form of SLC29A3 disorder: A frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. PLoS One 7(1):e29708.</ref> |
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== See also == |
== See also == |
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Revision as of 14:30, 13 January 2012
Equilibrative nucleoside transporter 1 (ENT1) is a protein that in humans is encoded by the SLC29A1 gene.[1][2]
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.[§ 1]
Fluorouracil (5-FU) Activity edit
- ^ The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".
Clinical
Mutations in this gene have been associated with H syndrome, pigmented hypertrichosis with insulin dependent diabetes and Faisalabad histiocytosis.[3]
See also
References
- ^ Griffiths M, Beaumont N, Yao SY, Sundaram M, Boumah CE, Davies A, Kwong FY, Coe I, Cass CE, Young JD, Baldwin SA (1997). "Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs". Nat Med. 3 (1): 89–93. doi:10.1038/nm0197-89. PMID 8986748.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Coe IR, Griffiths M, Young JD, Baldwin SA, Cass CE (1998). "Assignment of the human equilibrative nucleoside transporter (hENT1) to 6p21.1-p21.2". Genomics. 45 (2): 459–60. doi:10.1006/geno.1997.4928. PMID 9344680.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF, Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL (2012) A mild form of SLC29A3 disorder: A frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. PLoS One 7(1):e29708.
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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