| PRO ID |
PR:000026123
Show OBO stanza
/ PAF
|
| PRO name |
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB IVS3+5G->T (human) |
| Synonyms |
| PRO-short-label: |
hMCCC2/var:MCCB IVS3+5G->T |
|
| Definition |
A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that results from a nucleotide change leading to skipping of exon 3, frameshift, and early truncation of the amino acid sequence represented by UniProtKB:Q9HCC0-1.
[PMID:11170888, PRO:CNA]
|
| PRO Category |
organism-sequence |
| Parent |
PR:000026117 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) |
| Term Hierarchy Visualization |
DAG
OLS
Cytoscape
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