MCCC2 | ENSG00000131844 | NCBI 64087

Details for: MCCC2

Gene ID: 64087

Symbol: MCCC2

Ensembl ID: ENSG00000131844

Description: methylcrotonyl-CoA carboxylase subunit 2

Associated with

Biotin transport and metabolism
(R-HSA-196780)
Branched-chain amino acid catabolism
(R-HSA-70895)
Defective hlcs causes multiple carboxylase deficiency
(R-HSA-3371599)
Defects in biotin (btn) metabolism
(R-HSA-3323169)
Defects in vitamin and cofactor metabolism
(R-HSA-3296482)
Disease
(R-HSA-1643685)
Diseases of metabolism
(R-HSA-5668914)
Metabolism
(R-HSA-1430728)
Metabolism of amino acids and derivatives
(R-HSA-71291)
Metabolism of vitamins and cofactors
(R-HSA-196854)
Metabolism of water-soluble vitamins and cofactors
(R-HSA-196849)
3-methylcrotonyl-coa carboxylase complex, mitochondrial
(GO:0002169)
Atp binding
(GO:0005524)
Branched-chain amino acid catabolic process
(GO:0009083)
Coenzyme a metabolic process
(GO:0015936)
Cytosol
(GO:0005829)
Leucine catabolic process
(GO:0006552)
Methylcrotonoyl-coa carboxylase activity
(GO:0004485)
Methylcrotonoyl-coa carboxylase complex
(GO:1905202)
Mitochondrial matrix
(GO:0005759)
Mitochondrion
(GO:0005739)
Protein binding
(GO:0005515)

Other Information

Proteins

Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial

Genular Protein ID: 419931707

Symbol: MCCB_HUMAN

Name: Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial

UniProtKB Accession Codes:

Q9HCC0 A6NIY9 Q96C27 Q9Y4L7

Database IDs:

Citations:

PubMed ID: 11170888

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

PubMed ID: 11170888

DOI: 10.1086/318202

PubMed ID: 11181649

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

PubMed ID: 11181649

DOI: 10.1172/jci11948

PubMed ID: 11406611

Title: Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.

PubMed ID: 11406611

DOI: 10.1093/hmg/10.12.1299

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16023992

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

PubMed ID: 16023992

DOI: 10.1016/j.bbrc.2005.06.190

PubMed ID: 17360195

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

PubMed ID: 17360195

DOI: 10.1016/j.pep.2007.01.012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 14680978

Title: Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.

PubMed ID: 14680978

DOI: 10.1016/s1096-7192(03)00130-6

PubMed ID: 17968484

Title: Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.

PubMed ID: 17968484

DOI: 10.1007/s10038-007-0211-9

PubMed ID: 16010683

Title: 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

PubMed ID: 16010683

DOI: 10.1002/humu.9352

PubMed ID: 21071250

Title: Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.

PubMed ID: 21071250

DOI: 10.1016/j.ymgme.2010.10.008

PubMed ID: 22150417

Title: Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.

PubMed ID: 22150417

DOI: 10.1111/j.1399-0004.2011.01704.x

PubMed ID: 22264772

Title: A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

PubMed ID: 22264772

DOI: 10.1016/j.ymgme.2011.12.018

PubMed ID: 22642865

Title: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

PubMed ID: 22642865

DOI: 10.1186/1750-1172-7-31

PubMed ID: 25382614

Title: Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.

PubMed ID: 25382614

DOI: 10.1111/cge.12535

PubMed ID: 27601257

Title: 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

PubMed ID: 27601257

DOI: 10.1016/j.gene.2016.09.003

Sequence Information:

Length: 563
Mass: 61333
Checksum: 8E3D401AF52DC7D2
Sequence:

MWAVLRLALR PCARASPAGP RAYHGDSVAS LGTQPDLGSA LYQENYKQMK ALVNQLHERV 
EHIKLGGGEK ARALHISRGK LLPRERIDNL IDPGSPFLEL SQFAGYQLYD NEEVPGGGII 
TGIGRVSGVE CMIIANDATV KGGAYYPVTV KKQLRAQEIA MQNRLPCIYL VDSGGAYLPR 
QADVFPDRDH FGRTFYNQAI MSSKNIAQIA VVMGSCTAGG AYVPAMADEN IIVRKQGTIF 
LAGPPLVKAA TGEEVSAEDL GGADLHCRKS GVSDHWALDD HHALHLTRKV VRNLNYQKKL 
DVTIEPSEEP LFPADELYGI VGANLKRSFD VREVIARIVD GSRFTEFKAF YGDTLVTGFA 
RIFGYPVGIV GNNGVLFSES AKKGTHFVQL CCQRNIPLLF LQNITGFMVG REYEAEGIAK 
DGAKMVAAVA CAQVPKITLI IGGSYGAGNY GMCGRAYSPR FLYIWPNARI SVMGGEQAAN 
VLATITKDQR AREGKQFSSA DEAALKEPII KKFEEEGNPY YSSARVWDDG IIDPADTRLV 
LGLSFSAALN APIEKTDFGI FRM

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: MCCC2

Associated with

Other Information

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. PubMed ID: 11170888

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. PubMed ID: 11181649

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. PubMed ID: 11406611

The DNA sequence and comparative analysis of human chromosome 5. PubMed ID: 15372022

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase. PubMed ID: 16023992

Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC). PubMed ID: 17360195

Initial characterization of the human central proteome. PubMed ID: 21269460

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. PubMed ID: 14680978

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. PubMed ID: 17968484

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. PubMed ID: 16010683

Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. PubMed ID: 21071250

Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. PubMed ID: 22150417

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. PubMed ID: 22264772

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. PubMed ID: 22642865

Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. PubMed ID: 25382614

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. PubMed ID: 27601257