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基因注释:GDAP1L1

官方信息

官方名称:ganglioside induced differentiation associated protein 1 like 1

功能摘要:The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012].

作为靶基因的剪接因子
  • RBM10 综合评分: 0.312 · 证据 2 条
  • Tardbp 综合评分: 0.248 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • CSTF2T 综合评分: 0.100 · 证据 2 条
  • Rbpms 综合评分: 0.100 · 证据 1 条
关联疾病

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