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中文人类
RAX2 - Retina And Anterior Neural Fold Homeobox 2
Alias:
QRX
RP95
ARMD6
RAXL1
CORD11
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这个基因编码一个含有同源异型域的蛋白质，在眼睛发育中起作用。这个基因的突变导致6岁年龄相关性黄斑变性，这是一种导致视网膜色素上皮和布鲁奇膜下蛋白质和脂质积累的眼病。这个基因的缺陷也可能导致11型锥杆营养不良，这是一种以初始锥状光感受器细胞退化为特征的疾病，导致颜色视觉和视力的丧失，然后导致杆状光感受器细胞的退化，进而发展为夜盲和周边视力丧失。可变剪接导致多个转录变异体。[由RefSeq，2016年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RAX2 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
