The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
人 ACOX1 (NM_004035) cDNA克隆
| Accession: | NM_004035 |
|---|---|
| 基因名称: | ACOX1 |
| 基因别名: | ACOX; SCOX; PALMCOX |
| 基因描述: | Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA. |
| 种属: | Human |
| CDS区长度: | 1983 (查看编码区序列) |
| 翻译后氨基酸长度: | 660 (查看氨基酸序列) |
| Transcript Variant: | This variant (1) encodes isoform a, alternately referred to as ACOX1b per PMID: 17603022. |
| 人 ACOX1 (NM_004035) cDNA克隆 | transcript variant 1 |
| 人 ACOX1 (NM_007292) cDNA克隆 | transcript variant 2 |
| 人 ACOX1 (NM_001185039) cDNA克隆 | transcript variant 3 |
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