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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
LCTL - Lactase Like
Alias:
KLG
KLPH
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Description
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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1家族糖苷酶成员。糖苷酶是水解糖苷键的酶,根据主要氨基酸序列分为家族。1家族的大部分成员有两个保守的谷氨酸残基,这是酶活性所必需的。这个蛋白质的鼠正链已经过表征,具有N端信号肽、糖苷酶结构域、跨膜结构域和短的胞质尾的结构。它缺乏对催化重要的一个保守的谷氨酸残基,其功能尚待确定(PMID:12084582)。可变剪接产生多种转录变异体。[RefSeq,2013年6月提供]
Related ID:
NCBI:197021
ENSEMBL:ENSG00000188501
HGNC:15583
UNIPROT:Q6UWM7
OMIM:617060
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
197021
4
14
18467 bp
65.09
36
--
4
4
LCTL Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
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
Reset
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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