RBCC Red Blood Cell Collection

ODPB_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: PDHB , PHE1B
Protein names and data: ODPB_HUMAN , Pyruvate dehydrogenase E1 component subunit beta, mitochondrial; PDHE1-B; 1.2.4.1; Flags: Precursor Lenght: 359 a.a.
Mass: 39233 Da
fasta formatted sequence
Function: The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.
Catalytic activity: Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2).
Disease: ( OMIM: 179060 614111 ) Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111]: An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Mitochondrion matrix.

Genetic variants

31 - 31 L -> V. VAR_004967
132 - 132 Y -> C (in PDHBD; dbSNP:rs28935769). VAR_030954 28935769
344 - 344 P -> S (in PDHBD; dbSNP:rs28933391). VAR_021058 28933391

Database cross-references

UniProt: P11177
Ensembl: ENST00000302746
Ensembl: ENST00000383714
Ensembl: ENST00000485460
MIM: 179060
MIM: 614111
neXtProt: NX_P11177
Antibodypedia: P11177 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2