GRXCR1

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GRXCR1
Identifiers
AliasesGRXCR1, DFNB25, PPP1R88, glutaredoxin and cysteine rich domain containing 1
External IDsOMIM: 613283 MGI: 3577767 HomoloGene: 42423 GeneCards: GRXCR1
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for GRXCR1
Genomic location for GRXCR1
Band4p13Start42,893,267 bp[1]
End43,030,658 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001080476

NM_001018019

RefSeq (protein)

NP_001073945

NP_001018019

Location (UCSC)Chr 4: 42.89 – 43.03 MbChr 5: 68.03 – 68.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Glutaredoxin domain-containing cysteine-rich protein 1 is a protein that in humans is encoded by the GRXCR1 gene.[5]

This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment.[6] This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells.[5]

Model organisms[edit]

Model organisms have been used in the study of GRXCR1 function. A mutant mouse line, called tasmanian devil (Grxcr1tde[20]) was generated. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[18][21] Twenty four tests were carried out on mutant mice and thirteen significant abnormalities were observed.[18] Homozygous mutant animals of both sex displayed decreased body weights, grip strength, body fat, body length and plasma immunoglobulins, abnormal open field test and modified SHIRPA behaviour, and severe hearing impairment at 13 weeks. Male homozygous mutant animals additionally showed abnormal indirect calorimetry and clinical chemistry parameters, improved glucose tolerance and a decreased leukocyte cell number. Female homozygotes also had an increased response to stress-induced hyperthermia and a significantly reduced monocyte percentage.[18]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000215203 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000068082 - 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. ^ a b "Entrez Gene: glutaredoxin, cysteine rich 1". Retrieved 2011-08-30.
  6. ^ Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H (February 2010). "Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment". Am. J. Hum. Genet. 86 (2): 138–47. doi:10.1016/j.ajhg.2009.12.017. PMC 2820176. PMID 20137778.
  7. ^ "Body weight data for Grxcr1". Wellcome Trust Sanger Institute.
  8. ^ "Anxiety data for Grxcr1". Wellcome Trust Sanger Institute.
  9. ^ "Neurological assessment data for Grxcr1". Wellcome Trust Sanger Institute.
  10. ^ "Grip strength data for Grxcr1". Wellcome Trust Sanger Institute.
  11. ^ "Dysmorphology data for Grxcr1". Wellcome Trust Sanger Institute.
  12. ^ "Indirect calorimetry data for Grxcr1". Wellcome Trust Sanger Institute.
  13. ^ "Glucose tolerance test data for Grxcr1". Wellcome Trust Sanger Institute.
  14. ^ "DEXA data for Grxcr1". Wellcome Trust Sanger Institute.
  15. ^ "Body temperature data for Grxcr1". Wellcome Trust Sanger Institute.
  16. ^ "Clinical chemistry data for Grxcr1". Wellcome Trust Sanger Institute.
  17. ^ "Haematology data for Grxcr1". Wellcome Trust Sanger Institute.
  18. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  19. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  20. ^ "International Knockout Mouse Consortium".
  21. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.