This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]
Accession: | NM_001134793 |
---|---|
基因名称: | HYLS1 |
基因别名: | HLS |
基因描述: | Homo sapiens hydrolethalus syndrome 1 (HYLS1), transcript variant 2, mRNA. |
种属: | Human |
CDS区长度: | 900 (查看编码区序列) |
翻译后氨基酸长度: | 299 (查看氨基酸序列) |
Transcript Variant: | This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein. |
人 HYLS1 (NM_145014) cDNA克隆 | transcript variant 1 |
人 HYLS1 (NM_001134793) cDNA克隆 | transcript variant 2 |
This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]