3-Methylcrotonyl-CoA Carboxylase 1

Alternative Names

MCCC1
3-Methylcrotonyl-CoA Carboxylase, Alpha
MCCA
3-Methylcrotonyl-CoA Carboxylase, Biotin-Containing Subunit

Length

100,858 bases

No. of Exons

No. of isoforms

Protein Name

Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial

Molecular Mass

80473 Da

Amino Acid Count

725

Genomic Location

chr3:183,015,218-183,116,075

Gene Map Locus

3q27.1

Description

MCCC1 gene encodes the alpha subunit of a mitochondrial enzyme called the 3-methylcrotonoyl-CoA carboxylase (3-MCC), which plays an important role in leucine and isovaleric acid catabolism. Defects in this enzyme caused by mutations in MCCC1 gene lead to build-up of uncatalyzed compounds of leucine metabolic pathway in the body, resulting in the characteristic features of 3-MCC deficiency.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_020166.5:c.1106C>G	United Arab Emirates	NC_000003.12:g.183041728G>C		Likely Pathogenic	3-Methylcrotonyl-CoA Carboxylase 1 Deficiency	NG_008100.1:g.62850C>G; NM_020166.5:c.1106C>G ; NP_064551.3:p.Pro369Arg	749352296
NM_020166.5:c.1267+3A>C	Jordan	NC_000003.12:g.183041564T>G		Likely Pathogenic	3-Methylcrotonyl-CoA Carboxylase 1 Deficiency	NG_008100.1:g.63014A>C; NM_020166.5:c.1267+3A>C
NM_020166.5:c.1441G>T	Sudan	NC_000003.12:g.183037371C>A		Likely Pathogenic	3-Methylcrotonyl-CoA Carboxylase 1 Deficiency	NG_008100.1:g.67207G>T; NM_020166.5:c.1441G>T; NP_064551.3:p.Ala481Ser
NM_020166.5:c.694C>T	United Arab Emirates	NC_000003.12:g.183071066G>A	Uncertain Significance	Likely Pathogenic	3-Methylcrotonyl-CoA Carboxylase 1 Deficiency	NG_008100.1:g.33512C>T; NM_020166.5:c.694C>T ; NP_064551.3:p.Arg232Trp	727504004	167272
NM_020166.5:c.89+2_89+34del	United Arab Emirates	NC_000003.12:g.183099322_183099354del		Likely Pathogenic	3-Methylcrotonyl-CoA Carboxylase 1 Deficiency	NG_008100.1:g.5228_5260del; NM_020166.5:c.89+2_89+34del; NP_064551.3:p.?

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External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=MCCC1 https://medlineplus.gov/genetics/gene/mccc1/

Contributors

Asha Deepthi: 22.06.2021
Pratibha Nair: 16.03.2014
Nada Assaf: 06.03.2014

Edit History

Asha Deepthi: 22.06.2021
Asha Deepthi: 23.06.2020
Pratibha Nair: 27.03.2014

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