Mitochondrial Complex Iv Deficiency, Nuclear Type 22 (MC4DN22)

Alias:
Mc4dn22
Mitochondrial Complex Iv Deficiency Nuclear Type 22
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
线粒体复合体IV缺乏症,核型22,也称为MC4DN22。与线粒体复合体IV缺乏症,核型22有关的重要基因是COX16(细胞色素C氧化酶装配因子COX16)。相关组织包括大脑和肝脏,相关表型包括EEG异常和婴儿喂养困难。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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2
2
1

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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