人类

DNAH1 - Dynein Axonemal Heavy Chain 1

Alias:
HL11
HDHC7
HL-11
CILD37
DNAHC1
HSRF-1
SPGF18
XLHSRF-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个在内 dynein 臂重链,在放射状轮辐和精子尾的外部双联之间提供结构支持。这个基因中自然发生的突变与原发性纤毛运动障碍和鞭毛的多形态异常有关,导致弱精子症和男性不育。该正交基因的同系物基因的纯合子敲除小鼠是存活的,但精子活力降低且不育。[RefSeq, 2017年2月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4
78
89573 bp
487.50
1755
4
6
13

DNAH1 Genetics information (+)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* 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
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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Comparison
Al agent
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