Propionyl-Coa Carboxylase, Beta Subunit

Alternative Names

Pccb
Pccbc Complementation Group

Length

79,830 bases

No. of Exons

No. of isoforms

Protein Name

Propionyl-CoA carboxylase beta chain, mitochondrial

Molecular Mass

58216 Da

Amino Acid Count

539

Genomic Location

chr3:136,250,339-136,330,168

Gene Map Locus

3q22.3

Description

The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). [From RefSeq]

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_000532.5:c.1142G>A	Oman; United Arab Emir...	NC_000003.12:g.136326854G>A	Pathogenic	Pathogenic	Propionic Acidemia	NG_008939.1:g.81530G>A; NM_000532.5:c.1142G>A; NP_000523.2:p.Cys381Tyr	1024773388	557515
NM_000532.5:c.1519C>T	United Arab Emirates	NC_000003.12:g.136329925C>T	Pathogenic	Likely Pathogenic	Propionic Acidemia	NG_008939.1:g.84601C>T; NM_000532.5:c.1519C>T; NP_000523.2:p.Gln507Ter		1451153
NM_000532.5:c.990dup	Oman	chr3:136316964	Pathogenic	Pathogenic	Propionic Acidemia	NG_008939.1:g.71640dup; NM_000532.5:c.990dup; NP_000523.2:p.Glu331Ter	786200983	167423

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External Links

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

Contributors

Asha Deepthi: 14.06.2021
Pratibha Nair: 16.03.2014
Nada Assaf: 05.03.2014

Edit History

Asha Deepthi: 14.06.2021
Pratibha Nair: 10.08.2020
Pratibha Nair: 27.03.2014

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