Gene Ontology annotation through association of InterPro records with GO terms

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on curation of immunofluorescence data

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

Combined Automated Annotation using Multiple IEA Methods

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase.

Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC).

Structure and function of biotin-dependent carboxylases.

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.

Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.

Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.

CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system.

Differential CFTR-Interactome Proximity Labeling Procedures Identify Enrichment in Multiple SLC Transporters.

Multimodal cell maps as a foundation for structural and functional genomics.

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.

HLCS biotinylates 6xMCCC1:6xMCCC2

An unknown protease degrades hCBXs

Cytosolic carboxylases translocate to mitochondrial matrix

beta-methylglutaconyl-CoA + ADP + orthophosphate <=> beta-methylcrotonyl-CoA + ATP + HCO3- (MCCA)

beta-methylcrotonyl-CoA + ATP + HCO3- <=> beta-methylglutaconyl-CoA + ADP + orthophosphate + H2O (MCCA)

Defective HLCS does not biotinylate 6xMCCC1:6xMCCC2

MCCC mutants don't synthesize beta-methylglutaconyl-CoA