PJVK
Identifiers
AliasesPJVK, DFNB59, deafness, autosomal recessive 59, pejvakin
External IDsOMIM: 610219 MGI: 2685847 HomoloGene: 19773 GeneCards: PJVK
Orthologs
SpeciesHumanMouse
Entrez

494513

381375

Ensembl

ENSG00000204311

ENSMUSG00000075267

UniProt

Q0ZLH3

Q0ZLH2

RefSeq (mRNA)

NM_001080711

RefSeq (protein)

NP_001074180

Location (UCSC)Chr 2: 178.45 – 178.46 MbChr 2: 76.48 – 76.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Pejvakin is a protein that in humans is encoded by the PJVK gene. [5]

Function

The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008].

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000204311 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000075267 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Pejvakin". Retrieved 2020-05-18.

Further reading


This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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