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Protein Coding Gene : Pjvk pejvakin

Primary Identifier  MGI:2685847 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  381375
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Involved in several processes, including pexophagy; programmed cell death in response to reactive oxygen species; and regulation of peroxisome organization. Acts upstream of or within detection of mechanical stimulus involved in sensory perception of sound and stereocilium maintenance. Located in several cellular components, including cytoskeleton; peroxisomal membrane; and stereocilium base. Used to study autosomal recessive nonsyndromic deafness 59. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 59. Orthologous to human PJVK (pejvakin).
PHENOTYPE: Mice homozygous for a point mutation display increased auditory thresholds. [provided by MGI curators]
  • synonyms:
  • MGI:5906156,
  • Dfnb59,
  • Pjvk,
  • LOC381375,
  • deafness, autosomal recessive 59 (human),
  • gene model 1001, (NCBI),
  • Gm1001,
  • pejvakin

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

4 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

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For