The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
人 PLEKHM1 (NM_014798) cDNA克隆
| Accession: | NM_014798 |
|---|---|
| 基因名称: | PLEKHM1 |
| 基因别名: | B2; AP162; OPTB6 |
| 基因描述: | Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA. |
| 种属: | Human |
| CDS区长度: | 3171 (查看编码区序列) |
| 翻译后氨基酸长度: | 1056 (查看氨基酸序列) |
| Transcript Variant: | This variant (1) represents the protein-coding transcript. |
| 人 PLEKHM1 (NM_014798) cDNA克隆 | transcript variant 1 |
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