|  Help  |  About  |  Contact Us

Protein Coding Gene : Coq8a coenzyme Q8A
Primary Identifier  MGI:1914676 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  67426
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0)

Enables enzyme activator activity. Involved in ubiquinone biosynthetic process. Located in mitochondrion. Is extrinsic component of mitochondrial inner membrane. Is expressed in heart and heart right ventricle. Used to study primary coenzyme Q10 deficiency 4. Human ortholog(s) of this gene implicated in primary coenzyme Q10 deficiency 4. Orthologous to human COQ8A (coenzyme Q8A).
PHENOTYPE: Homozygous null mice develop slowly progressing cerebellar ataxia, Purkinje cell degeneration and dysfunction, mild exercise intolerance, and increased susceptibility to induced seizures. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA 4632432J16 gene,
  • 4632432J16Rik,
  • coenzyme Q8A,
  • aarF domain containing kinase 3,
  • chaperone, ABC1 activity of bc1 complex like (S. pombe),
  • AI462003,
  • Coq8a,
  • Adck3,
  • expressed sequence AI462003,
  • Cabc1,
  • MGI:2138259,
  • mKIAA0451
Paste the following link
Lists
This ProteinCodingGene isn't in any lists. Upload a list.

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For





MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

© 2002 - 2017 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom