Log In|Sign Up
ENCombined Oxidative Phosphorylation Deficiency 43 (COXPD43)
Alias:
Coxpd43
Favorite
Combined Oxidative Phosphorylation Deficiency 43, is also known as coxpd43. An important gene associated with Combined Oxidative Phosphorylation Deficiency 43 is TIMM22 (Translocase Of Inner Mitochondrial Membrane 22). Affiliated tissues include brain, and related phenotypes are neonatal hypotonia and gastroesophageal reflux
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
