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中文人类
CLDN19 - Claudin 19
Alias:
HOMG5
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这个基因的产物属于克劳丁家族。它通过钙独立的细胞粘附活性，在紧密连接特异性的细胞间空间消除中起主要作用。这个基因的缺陷是低镁血症肾病伴有眼部受累（HOMGO）的原因。HOMGO是一种进行性肾病，其特征是主要的肾镁浪费伴有低镁血症、高钙尿症和肾钙化，伴有严重的眼部异常，如双眼黄斑部疤痕、视网膜缺损、显著近视和眼震。这个基因已被识别出有编码不同异构体的可变剪接转录变体。[由RefSeq提供，2010年6月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CLDN19 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
