|Institutional Source||Beutler Lab|
|Gene Name||acetyl-Coenzyme A carboxylase alpha|
|Synonyms||LOC327983, Acac, A530025K05Rik, acetyl-CoA carboxylase, Acc1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5437 (G1)|
|Chromosomal Location||84129672-84401651 bp(+) (GRCm38)|
|Type of Mutation||splice site (5 bp from exon)|
|DNA Base Change (assembly)||G to A at 84346820 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000099490 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020843] [ENSMUST00000103201]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||97% (63/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality before embryo turning with growth arrest at the egg cylinder stage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acaca||
(F):5'- TCCTGGAGGGTCTAAGACTCAC -3'
(R):5'- TATGACCTCTTTGGAACAGAGG -3'
(F):5'- CTGGAGGGTCTAAGACTCACTATTC -3'
(R):5'- ACGCAAGAGTCATACTGGTAC -3'