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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
人类
GPIHBP1 - Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1
Alias:
HYPL1D
GPI-HBP1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种毛细血管内皮细胞蛋白,有助于富含甘油三酯的脂蛋白的脂肪分解处理。编码的蛋白是一个糖基磷酯酰肌醇锚定的蛋白,是淋巴细胞抗原6(Ly6)家族的成员。这个蛋白在将脂蛋白脂酶(LPL)从内皮下空间运输到毛细血管腔中起主要作用。这个基因的突变是导致高脂蛋白血症,1D型的原因。交替剪接导致多个转录变异体。[RefSeq,2014年9月提供]
Related ID:
NCBI:338328
ENSEMBL:ENSG00000277494
HGNC:24945
UNIPROT:Q8IV16
OMIM:612757
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
338328
2
4
3953 bp
19.85
121
1
6
17
GPIHBP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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