人类

GCSH - Glycine Cleavage System Protein H

Alias:
GCE
NKH
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
糖氨酸的降解是由糖氨酸裂解系统引起的,该系统由四个线粒体蛋白质成分组成:P蛋白(一种依赖吡哆醇磷酸的糖氨酸脱羧酶),H蛋白(一种含有硫辛酸的蛋白质),T蛋白(一种需要四氢叶酸的酶)和L蛋白(一种硫胺素脱氢酶)。此基因编码的蛋白是H蛋白,它将糖氨酸的甲胺基团从P蛋白转移到T蛋白。此基因的缺陷是导致非酮症性高糖氨酸血症(NKH)的原因。已在此基因中发现两种转录变异体,一种蛋白质编码,另一种可能非蛋白质编码。此外,该基因的数个转录和非转录假基因遍布整个基因组。[RefSeq,2010年1月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4
5
14451 bp
18.89
110
4
3
9

GCSH 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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