This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
人 ACAA1 (NM_001130410) cDNA克隆
| Accession: | NM_001130410 |
|---|---|
| 基因名称: | ACAA1 |
| 基因别名: | ACAA; THIO; PTHIO |
| 基因描述: | Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), transcript variant 2, mRNA. |
| 种属: | Human |
| CDS区长度: | 996 (查看编码区序列) |
| 翻译后氨基酸长度: | 331 (查看氨基酸序列) |
| Transcript Variant: | This variant (2) lacks alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a. |
| 人 ACAA1 (NM_001607) cDNA克隆 | transcript variant 1 |
| 人 ACAA1 (NM_001130410) cDNA克隆 | transcript variant 2 |
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