2. Gene
  3. MCCC1 - methylcrotonyl-CoA carboxylase subunit 1 Gene

MCCC1 - methylcrotonyl-CoA carboxylase subunit 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MCCA; MCC-B; MCCCalpha

Gene ID: 56922 | Gene type: protein coding

About MCCC1

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:183,015,218-183,116,196 (from NCBI)

This gene has 14 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 22.0), kidney (RPKM 20.5) and 25 other tissues.

Summary

This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This Enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]

MCCC1 Products(3)

mRNA Protein Name
NM_001293273.2 NP_001280202.1 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 2
NM_001363880.1 NP_001350809.1 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 3
NM_020166.5 NP_064551.3 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial isoform 1 precursor

MCCC1 Protein Structure

Biotin_carb_N

Biotin_carb_N: Biotin carboxylase, N-terminal domain (49 - 157)

CPSase_L_D2

CPSase_L_D2: Carbamoyl-phosphate synthase L chain, ATP binding domain (163 - 369)

Biotin_carb_C

Biotin_carb_C: Biotin carboxylase C-terminal domain (383 - 489)

Biotin_lipoyl

Biotin_lipoyl: Biotin-requiring enzyme (651 - 713)

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  • 725 a.a.
Protein Preferred Names Protein Names

methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial

3-methylcrotonyl-CoA carboxylase 1

Related Diseases

Diseases Alias
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

MCC1D

Mccd Type 1

Mcc1 Deficiency

Methylcrotonylglycinuria Type I

3-Methylcrotonylglycinuria I

3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency

3-Methylcrotonylglycinuria Type I

Mcgi

3 Methylcrotonyl-Coa Carboxylase 1 Deficiency

3-Methylcrotonyl Coa Carboxylase 1 Deficiency
3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Methylcrotonylglycinuria

Mcc Deficiency

Methylcrotonyl-Coa Carboxylase Deficiency

Bmcc Deficiency

3-Mcc Deficiency

3mcc

Mccd

3mcc Deficiency

Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Mcc

3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency

Deficiency Of Methylcrotonoyl-Coa Carboxylase

3-Methyl Crotonyl-Coa Carboxylase Deficiency

3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Mucinous Intrahepatic Cholangiocarcinoma

Mucin-Producing Intrahepatic Cholangiocarcinoma
Multiple Carboxylase Deficiency

Mcd

Holocarboxylase Synthetase Deficiency
Tuberculum Sellae Meningioma

Meningioma Of The Tuberculum Sellae
Sella Turcica Neoplasm

Tumor Of Sella Turcica
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency

Acads Deficiency

Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency

Scadh Deficiency

Short-Chain Acyl-Coa Dehydrogenase Deficiency

Deficiency Of Butyryl-Coa Dehydrogenase

Short Chain Acyl-Coa Dehydrogenase Deficiency

ACADSD

Scadd

Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of

Acyl-Coa Dehydrogenase Short-Chain Deficiency
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of

Vlcad Deficiency

Very Long Chain Acyl-Coa Dehydrogenase Deficiency

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Lcad Deficiency

Very Long-Chain Acyl-Coa Dehydrogenase Deficiency

Long Chain Acyl-Coa Dehydrogenase Deficiency

ACADVLD

Acadl Deficiency

Vlcadd

Long-Chain Acyl-Coa Dehydrogenase Deficiency

Acadvl

Acyl-Coa Dehydrogenase Very Long Chain Deficiency

Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency

Vlcad-C

Vlcad-H

Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of

Acyl-Coa Dehydrogenase Very Long-Chain Deficiency

Acyl-Coa Dehydrogenase Long-Chain Deficiency

Deficiency, Very Long Chain Acyl-Coa Dehydrogenase

Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08218 MCCC1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus MCCC1 VGNC VGNC:68208
Rattus norvegicus MCCC1 RGD RGD:1310615
Bos taurus MCCC1 VGNC VGNC:31298
Canis familiaris MCCC1 VGNC VGNC:43070
Macaca mulatta MCCC1 VGNC VGNC:74676
Mus musculus MCCC1 MGD MGI:1919289