🧬 基因注释：MLPH

官方名称：melanophilin

功能摘要：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].

• HNRNPC 综合评分: 0.510 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• GRSF1 综合评分: 0.248 · 证据 2 条
• Tra2b 综合评分: 0.198 · 证据 1 条
• YBX1 综合评分: 0.162 · 证据 1 条
• Srsf1 综合评分: 0.150 · 证据 1 条
• Tardbp 综合评分: 0.150 · 证据 1 条
• Rbmx 综合评分: 0.100 · 证据 1 条
• Sf3b1 综合评分: 0.100 · 证据 1 条
• Srsf7 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录