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中文人类
CLCN7 - Chloride Voltage-gated Channel 7
Alias:
HOD
CLC7
CLC-7
OPTA2
OPTB4
PPP1R63
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这个基因的产物属于CLC氯通道家族的蛋白质。氯通道在质膜和细胞内细胞器中扮演重要角色。这个基因编码氯通道7。这个基因的缺陷是导致常染色体隐性型4（OPTB4）的骨病，也被称为婴儿恶性骨硬化症2型，同时也是常染色体显性骨硬化症2型（OPTA2）的病因，也被称为常染色体显性Albers-Schonberg病或大理石病常染色体显性。骨硬化症是一种罕见的遗传病，其特征是异常致密的骨，这是由于未成熟骨的吸收缺陷所导致的。OPTA2是骨硬化症最常见的形式，发生在青春期或成年期。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CLCN7 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
