GRXCR1

Glutaredoxin, cysteine rich 1
Identifiers
Symbols	GRXCR1 ; DFNB25; PPP1R88
External IDs	OMIM: 613283 HomoloGene: 42423 GeneCards: GRXCR1 Gene
Gene ontology Molecular function • molecular_function • electron carrier activity • protein disulfide oxidoreductase activity Cellular component • stereocilium • kinocilium Biological process • sensory perception of sound • negative regulation of phosphatase activity • auditory receptor cell differentiation • cell redox homeostasis • post-embryonic organ morphogenesis • oxidation-reduction process • vestibular receptor cell development • inner ear receptor cell development • inner ear receptor stereocilium organization Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	389207	433899
Ensembl	ENSG00000215203	ENSMUSG00000068082
UniProt	A8MXD5	Q50H32
RefSeq (mRNA)	NM_001080476	NM_001018019
RefSeq (protein)	NP_001073945	NP_001018019
Location (UCSC)	Chr 4: 42.89 – 43.03 Mb	Chr 5: 68.03 – 68.17 Mb
PubMed search

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

This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment.^[2] 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.^[1]

Model organisms

tasmanian devil mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Abnormal[3]
Anxiety	Abnormal[4]
Neurological assessment	Abnormal[5]
Grip strength	Abnormal[6]
Hot plate	Normal
Dysmorphology	Normal[7]
Indirect calorimetry	Abnormal[8]
Glucose tolerance test	Abnormal[9]
Auditory brainstem response	Abnormal
DEXA	Abnormal[10]
Radiography	Normal
Body temperature	Abnormal[11]
Eye morphology	Normal
Clinical chemistry	Abnormal[12]
Plasma immunoglobulins	Abnormal
Haematology	Abnormal[13]
Peripheral blood lymphocytes	Abnormal
Micronucleus test	Normal
Heart weight	Normal
Tail epidermis wholemount	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
All tests and analysis from[14][15]

Model organisms have been used in the study of GRXCR1 function. A mutant mouse line, called tasmanian devil (Grxcr1^tde[16]) was generated. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[14][17] Twenty four tests were carried out on mutant mice and thirteen significant abnormalities were observed.^[14] 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.^[14]

References

1. "Entrez Gene: glutaredoxin, cysteine rich 1". Retrieved 2011-08-30.
2. 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.
3. "Body weight data for Grxcr1". Wellcome Trust Sanger Institute.
4. "Anxiety data for Grxcr1". Wellcome Trust Sanger Institute.
5. "Neurological assessment data for Grxcr1". Wellcome Trust Sanger Institute.
6. "Grip strength data for Grxcr1". Wellcome Trust Sanger Institute.
7. "Dysmorphology data for Grxcr1". Wellcome Trust Sanger Institute.
8. "Indirect calorimetry data for Grxcr1". Wellcome Trust Sanger Institute.
9. "Glucose tolerance test data for Grxcr1". Wellcome Trust Sanger Institute.
10. "DEXA data for Grxcr1". Wellcome Trust Sanger Institute.
11. "Body temperature data for Grxcr1". Wellcome Trust Sanger Institute.
12. "Clinical chemistry data for Grxcr1". Wellcome Trust Sanger Institute.
13. "Haematology data for Grxcr1". Wellcome Trust Sanger Institute.
14. 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.
15. Mouse Resources Portal, Wellcome Trust Sanger Institute.
16. "International Knockout Mouse Consortium".
17. 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.