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- accession：NM_024101
- 基因别名：MLPH
- 基因描述：Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.
- 载体：现货载体
- CDS区长度：1803
- 翻译后氨基酸长度：600
- TranscriptVariant：This variant (1) encodes the longest isoform (1).
- 基因简介：This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
