GRXCR1

Glutaredoxin domain-containing cysteine-rich protein 1 is a is_associated_with::protein that in humans is encoded by the GRXCR1 is_associated_with::gene.

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

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