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Pejvakin

From Wikipedia, the free encyclopedia
PJVK
Identifiers
AliasesPJVK, DFNB59, deafness, autosomal recessive 59, pejvakin
External IDsOMIM: 610219; MGI: 2685847; HomoloGene: 19773; GeneCards: PJVK; OMA:PJVK - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000204311Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000075267Ensembl, 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

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