GRXCR1 (glutaredoxin and cysteine rich domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
4p13
LOCUSID
ALIAS
DFNB25,PPP1R88
FUSION GENES

Other Information

Locus ID:

NCBI: 389207
MIM: 613283
HGNC: 31673
Ensembl: ENSG00000215203

Variants:

dbSNP: 389207
ClinVar: 389207
TCGA: ENSG00000215203
COSMIC: GRXCR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000215203ENST00000399770A8MXD5

Expression (GTEx)

0
1

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201377782010Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.0
258022472015Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.0

Citation

Dessen P

GRXCR1 (glutaredoxin and cysteine rich domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64063/grxcr1