This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
人 FRAS1 (NM_001166133) cDNA克隆
| Accession: | NM_001166133 |
|---|---|
| 基因名称: | FRAS1 |
| 基因描述: | Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 2, mRNA. |
| 种属: | Human |
| CDS区长度: | 5931 (查看编码区序列) |
| 翻译后氨基酸长度: | 1976 (查看氨基酸序列) |
| Transcript Variant: | This variant (2) differs in the presence and absence of exons in its 3' coding region and 3' UTR, compared to variant 1, resulting in an isoform (2) with a distinct and significantly shorter C-terminus, compared to isoform 1. |
| 人 FRAS1 (NM_025074) cDNA克隆 | transcript variant 1 |
| 人 FRAS1 (NM_001166133) cDNA克隆 | transcript variant 2 |
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