GRXCR1

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

GRXCR1
Identifiers
Aliases	GRXCR1, DFNB25, PPP1R88, glutaredoxin and cysteine rich domain containing 1
External IDs	OMIM: 613283; MGI: 3577767; HomoloGene: 42423; GeneCards: GRXCR1; OMA:GRXCR1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p13 Start 42,892,713 bp[1] End 43,030,658 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 C3.1|5 36.59 cM Start 68,189,178 bp[2] End 68,323,741 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle gonad right frontal lobe anterior cingulate cortex prostate Top expressed in endolymphatic duct vestibular labyrinth utricle blastocyst testicle neural tube More reference expression data BioGPS n/a
Gene ontology Molecular function protein-disulfide reductase activity electron transfer activity molecular function Cellular component cell projection stereocilium cilium kinocilium microvillus Biological process inner ear receptor cell development negative regulation of phosphatase activity inner ear receptor cell stereocilium organization hearing vestibular receptor cell development cell redox homeostasis electron transport chain 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: 68.19 – 68.32 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

tasmanian devil mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Abnormal[7]
Anxiety	Abnormal[8]
Neurological assessment	Abnormal[9]
Grip strength	Abnormal[10]
Hot plate	Normal
Dysmorphology	Normal[11]
Indirect calorimetry	Abnormal[12]
Glucose tolerance test	Abnormal[13]
Auditory brainstem response	Abnormal
DEXA	Abnormal[14]
Radiography	Normal
Body temperature	Abnormal[15]
Eye morphology	Normal
Clinical chemistry	Abnormal[16]
Plasma immunoglobulins	Abnormal
Haematology	Abnormal[17]
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[18][19]

Model organisms have been used in the study of GRXCR1 function. A mutant mouse line, called tasmanian devil (Grxcr1^tde[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]