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中文人类
AIPL1 - Aryl Hydrocarbon Receptor Interacting Protein Like 1
Alias:
LCA4
AIPL2
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Leber先天性夜盲（LCA）是最严重的遗传性视网膜病变，发病年龄最早，占所有遗传性视网膜疾病的至少5%。受影响的个体在出生时或出生后头几个月内被诊断出有眼球震颤、严重视力损害或失明以及异常或平坦的电子视网膜电位。光感受器/松果体表达基因AIPL1编码类羟色胺相互作用蛋白-like 1，位于LCA4候选区域。编码的蛋白质含有三个tetratricopeptide结构域，与分子伴侣或核运输活性一致。该基因中的突变可能导致大约20%的隐性Leber先天性夜盲。可变剪接导致多个转录变异体。[由RefSeq，2014年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AIPL1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
