Organization and expression of the SLC36 cluster of amino acid transporter genes
Organization and expression of the SLC36 cluster of amino acid transporter genes
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DOI：
10.1007/s00335-003-2319-3
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发表时间：
2004-02-01
期刊：
影响因子：
2.5
通讯作者：
Pennington, J
中科院分区：
文献类型：
--
作者：
Bermingham, JR;Pennington, J
编码氨基酸转运蛋白的三个密切相关基因在人类的5q32和小鼠的染色体(Chr)11上聚集在一起。人类SLC36A1基因编码溶酶体氨基酸转运蛋白LYAAT1/PAT1，它产生多种可供选择的mRNAs，其中一些编码截短的蛋白质。SLC36A1在多种组织中表达，而编码甘氨酸转运蛋白Tramdorin1/PAT2的SLC36A2在肾脏和肌肉中表达最丰富。第三个基因SLC36A3的表达仅限于睾丸。小鼠SLc36a2在骨和脂肪组织中也有表达。人类SLC36A2基因的多态性排除了它作为已被映射到5q31-33的周围神经病变的候选基因的可能性。根据SLC36A2的染色体定位和在骨骼中的表达，SLC36A2是5q-骨髓增生异常综合征的候选基因。
Three closely related genes encoding amino acid transport proteins are clustered on 5q32 in humans, and Chromosome (Chr) 11 in mice. The human SLC36A1 gene, which encodes the lysosomal amino acid transporter LYAAT1/PAT1, generates multiple alternative mRNAs, some of which encode truncated proteins. SLC36A1 is expressed in numerous tissues, whereas expression of SLC36A2, which encodes the glycinc transporter tramdorin1/PAT2, is most abundant in kidney and muscle. Expression of a third gene, SLC36A3, is restricted to testis. Mouse Slc36a2 also is expressed in bone and fat tissue. Polymorphisms in human SLC36A2 exclude it as a candidate locus for a peripheral neuropathy that has been mapped to 5q31-33. SLC36A2 is a candidate gene for 5q-myelodysplastic syndrome, on the basis of its chromosomal location and its expression in bone.