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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Mlph - melanophilin
Alias:
ln
l1Rk3
Slac-2a
D1Wsu84e
l(1)-3Rk
2210418F23Rik
5031433I09Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一种蛋白质,具有调控细胞骨架蛋白结合活性和GTP酶结合活性。它在黑色素细胞分化、黑色素体定位和蛋白质靶向中起到上游或内部作用。该蛋白位于细胞骨架和黑色素体中,是异常肌球蛋白复合物的一部分。它在多个组织中表达,包括泌尿系统、肠道、肝脏、肺和脾脏。这个基因的人类同源物与Griscelli综合征3型有关。与人类MLPH(melanophilin)同源。
Related ID:
NCBI:171531
ENSEMBL:ENSMUSG00000026303
UNIPROT:Q91V27
Basic Information
NCBI
Transcripts
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171531
2
16
36115 bp
65.05
6
7
Mlph Genetics information (+)
GRCm39
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* This data comes from NCBI.
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