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中文人类
CFTR - CF Transmembrane Conductance Regulator
Alias:
CF
MRP7
ABC35
ABCC7
CFTR/MRP
TNR-CFTR
dJ760C5.1
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这个基因编码一个ATP结合盒(ABC)转运蛋白超家族的成员。编码的蛋白质作为氯通道发挥作用，使其在这个蛋白质家族中独一无二，并控制上皮组织中的离子和水分泌和吸收。通道的激活是通过调节结构域磷酸化的循环、核苷酸结合结构域的ATP结合和ATP水解来介导的。这个基因的突变导致囊性纤维化，这是北欧后裔人群中最常见的致死性遗传障碍。囊性纤维化的最常见突变DeltaF508导致编码的蛋白质的折叠和运输受损。在人基因组中已经发现了多个假基因。[RefSeq,2017年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CFTR 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
