Propionyl-CoA Carboxylase, Alpha Subunit

Alternative Names

  • PCCA
  • PCCA Complementation Group

Associated Diseases

Propionic Acidemia
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OMIM Number

232000

NCBI Gene ID

5095

Uniprot ID

P05165

Length

441,423 bases

No. of Exons

32

No. of isoforms

3

Protein Name

Propionyl-CoA carboxylase alpha chain, mitochondrial

Molecular Mass

80059 Da

Amino Acid Count

728

Genomic Location

chr13:100,089,015-100,530,437

Gene Map Locus
13q32.3

Description

The PCCA gene localizes to the chromosomal region 13q32.3. It gives instructions for making the alpha subunit of the heterodimeric mitochondrial Propionyl-CoA Carboxylase enzyme. This enzyme comprises 728 amino acids and weighs approximately 80 kDa. Propionyl-CoA Carboxylase enzyme plays a role in breaking down several amino acids including: isoleucine, methionine, threonine, and valine. The alpha subunit includes the biotin-binding region of this enzyme that binds to biotin and uses it to convert the propionyl-CoA to methylmalonyl-CoA.

Defects in the Propionyl-CoA Carboxylase enzyme results in the accumulation of harmful compounds that build up to toxic levels in the body, causing damages resulting in propionic academia. Propionic Acidemia is a life-threatening disease, characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.

Molecular Genetics

The PCCA gene consists of 24 coding exons, and is about 441 kb in length. More than 45 mutations have been identified in this gene in patients with Propionic Acidemia. These mutations include single base pair substitutions, deletions, and insertions.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000282.3c.1209+3A>GLebanonchr13:100301606Likely PathogenicPathogenicPropionic AcidemiaNG_008768.1:g.217524A>G; NM_000282.3c.1209+3A>G1467680142553422
NM_000282.4:c.1598_1601delUnited Arab EmiratesNC_000013.11:g.100340214_100340217delPathogenicPathogenicPropionic AcidemiaNG_008768.1:g.256132_256135del; NM_000282.4:c.1598_1601del; NP_000273.2:p.Phe533TrpfsTer513445742421070049
NM_000282.4:c.2158_2159insTUnited Arab EmiratesNC_000013.11:g.100530137_100530138insTLikely PathogenicPropionic AcidemiaNG_008768.1:g.446055_446056insT; NM_000282.4:c.2158_2159insT; NP_000273.2:p.Glu720ValfsTer14

Other Reports

Saudi Arabia

Kaya et al. (2008) screened two siblings affected with propionic acidemia for putative mutations in the PCCA and PCCB genes. Both patients had a mild-severe form of propionic acidemia. DNA analysis revealed a ~73kb deletion extending from intron 16 to intron 19 and an 18bp insertion at the distal end of the deletion in PCCA gene. Kaya et al. (2008) commented that this deletion is the largest gross change reported in the literature for the PCCA gene.

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