Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C1832526 (
PCC
)
5,967
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Propionic acidemia is an inborn error of organic acid metabolism caused by deficiency of propionyl-CoA carboxylase (
PCC
: E. C. 6. 4. 1. 3.). We have detected three types of mutation in the same exon of the coding sequence of beta-subunit of
PCC
(
beta PCC
) from two ethnic background (Caucasians and Japanese): an insertion/deletion which replaces 14 nucleotides with 12 unrelated nucleotides results in the elimination of an Msp I site; a 3-bp inframe deletion results in loss of one of two consecutive isoleucine codons immediately preceding the same Msp I site; the C----T transition results a in loss of the same Msp I site. The insertion/deletion and the C----T transition show high allele frequency in Caucasians (0.32) and in Japanese (0.3), respectively. These results reveal the possibility of the independent origin of the mutation in the two ethnic backgrounds and suggest a key role of this exon in the structure and catalytic function of the beta-subunit of
PCC
.
...
PMID:[Molecular basis of organic acidemia--propionic acidemia]. 209 43
