Details of Experiment

Regulating Pair
Introduced Variation	Mutation ( c.1263dupG, p.Q421AfsX10; c.1263dupG/c.1682-3A>G, p.Q421AfsX10/p.N561KfsX10) of MCCC1	Protein Info
Induced Change	ATP concentration: decrease	Metabo Info
Summary	Introduced Variation Induced Change

Full List of Experiment(s) Validating This Regulating Pair
Details of Experiment for Validating This Pair			[1]
Method	Quantifying the change of adenosine triphosphate concentration after mutation of MCCC1 through kit detection.
Disease Status	Lipid metabolism disorders	ICD-11: 5C52
Organ/Tissue/Cell Line	Skin fibroblasts	Skin
Subcellular Location	Mitochondrion (Mitochondrion matrix)
Tested Species	Species: Homo sapiens (Click to Show/Hide the Complete Species Lineage) Kingdom: Metazoa Phylum: Chordata Class: Mammalia Order: Primates Family: Hominidae Genus: Homo Species: Homo sapiens
Details	It is reported that mutation ( c.1263dupG, p.Q421AfsX10; c.1263dupG/c.1682-3A>G, p.Q421AfsX10/p.N561KfsX10) of MCCC1 leads to the decrease of ATP levels compared with control group in Skin fibroblasts.

References
1	A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress. Int J Biochem Cell Biol. 2016 Sep;78:116-129.

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