This gene encodes a member of a member of a high affinity glutamate transporter family. Mutations in this gene are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]
| Accession: | NM_001166695 |
|---|---|
| 基因名称: | SLC1A3 |
| 基因别名: | EA6; EAAT1; GLAST; GLAST1 |
| 基因描述: | Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 2, mRNA. |
| 种属: | Human |
| CDS区长度: | 1494 (查看编码区序列) |
| 翻译后氨基酸长度: | 497 (查看氨基酸序列) |
| Transcript Variant: | This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded protein (isoform 2) is shorter compared to isoform 1. |
| 人 SLC1A3 (NM_004172) cDNA克隆 | transcript variant 1 |
| 人 SLC1A3 (NM_001166695) cDNA克隆 | transcript variant 2 |
| 人 SLC1A3 (NM_001166696) cDNA克隆 | transcript variant 3 |
This gene encodes a member of a member of a high affinity glutamate transporter family. Mutations in this gene are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]