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Protein Coding Gene : Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide

Primary Identifier  MGI:97499 Organism  mouse, laboratory
Chromosome  14 NCBI Gene Number  110821
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables propionyl-CoA carboxylase activity. Predicted to act upstream of or within lipid catabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; nervous system; orbito-sphenoid; sensory organ; and urinary system. Used to study propionic acidemia. Human ortholog(s) of this gene implicated in amino acid metabolic disorder and propionic acidemia. Orthologous to human PCCA (propionyl-CoA carboxylase subunit alpha).
PHENOTYPE: Homozygous null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-13172,
  • MGI:2145863,
  • expressed sequence C79630,
  • propionyl-Coenzyme A carboxylase, alpha polypeptide,
  • C79630,
  • Pcca

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 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

8 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