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中文人类
MOCOS - Molybdenum Cofactor Sulfurase
Alias:
MCS
MOS
HMCS
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这个基因编码一种酶，该酶使钼辅因子硫化，钼辅因子是激活黄嘌呤脱氢酶（XDH）和醛氧化酶（AO）所必需的。XDH催化次黄嘌呤通过黄嘌呤转化为尿酸，以及将别嘌呤醇转化为氧嘌呤醇，将吡嗪酰胺转化为5-羟基吡嗪酰胺。这个基因的突变导致代谢紊乱经典黄嘌呤尿Ⅱ型，其特征是XDH/XO和AO酶活性丧失，尿液中尿酸水平降低，血清和尿液中黄嘌呤和次黄嘌呤水平增加，尿路中黄嘌呤结石的形成，以及由于黄嘌呤在组织中的沉积导致的肌炎。[由RefSeq，2017年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MOCOS 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
