Biology:Mitochondrial pyruvate carrier 2
 Generic protein structure example |
Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a protein that in humans is encoded by the MPC2 gene.[1][2][3] It is a member of the Mitochondrial Pyruvate Carrier (MPC) protein family.[4] This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.[5]
Interactive pathway map
Clinical significance
Mutations in the MPC2 gene cause an autosomal recessive disease comparable to the symptoms of Mitochondrial pyruvate carrier deficiency (MPC1 gene).[6] The symptoms associated with mutations in the MPC2 gene include early-onset neurological problems, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), lactic acidosis, hypotonia, cardiomegaly, and facial dysmorphia.[6]
See also
- Mitochondrial pyruvate carrier 1 (MPC1)
- Inborn errors of carbohydrate metabolism
References
- ↑ "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research 11 (3): 422–435. March 2001. doi:10.1101/gr.GR1547R. PMID 11230166.
- ↑ "Structural characterization of a heterogeneous family of rat brain mRNAs". Molecular and Cellular Biology 6 (3): 768–778. March 1986. doi:10.1128/mcb.6.3.768. PMID 3022128.
- ↑ "BRP44 brain protein 44". Entrez Gene. https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25874.
- ↑ "mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family". UniProt. https://www.uniprot.org/uniprot/?query=family:%22mitochondrial+pyruvate+carrier+%28MPC%29+%28TC+2.A.105%29+family%22.
- ↑ "Pyruvate transmembrane transporter activity". QuickGO. EMBL-EBI. https://www.ebi.ac.uk/QuickGO/term/GO:0050833.
- ↑ 6.0 6.1 "MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy". Brain 146 (3): 858–864. March 2023. doi:10.1093/brain/awac444. PMID 36417180.
Further reading
- "DNA cloning using in vitro site-specific recombination". Genome Research 10 (11): 1788–1795. November 2000. doi:10.1101/gr.143000. PMID 11076863.
- "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports 1 (3): 287–292. September 2000. doi:10.1093/embo-reports/kvd058. PMID 11256614.
- "From ORFeome to biology: a functional genomics pipeline". Genome Research 14 (10B): 2136–2144. October 2004. doi:10.1101/gr.2576704. PMID 15489336.
- "The LIFEdb database in 2006". Nucleic Acids Research 34 (Database issue): D415–D418. January 2006. doi:10.1093/nar/gkj139. PMID 16381901.
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