OXR1 - oxidation resistance 1 Gene

Homo sapiens

Also known as TLDC3; CHEGDD; Nbla00307

Gene ID: 55074 | Gene type: protein coding

About OXR1

Cytogenetic location: 8q23.1 Genomic coordinates (GRCh38): 8:106,270,178-106,752,694 (from NCBI)

This gene has 19 transcripts (splice variants), 222 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 30.5), testis (RPKM 21.8) and 24 other tissues.

Summary

Predicted to enable oxidoreductase activity. Predicted to be involved in response to oxidative stress. Predicted to act upstream of or within several processes, including adult walking behavior; negative regulation of neuron death; and negative regulation of peptidyl-cysteine S-nitrosylation. Predicted to be located in mitochondrion and nucleolus. Predicted to be active in nucleus. Implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay. [provided by Alliance of Genome Resources, Apr 2022]

OXR1 Products(6)

mRNA	Protein	Name
NM_001198532.1	NP_001185461.1	oxidation resistance protein 1 isoform 3
NM_001198533.2	NP_001185462.1	oxidation resistance protein 1 isoform 4
NM_001198534.1	NP_001185463.1	oxidation resistance protein 1 isoform 5
NM_001198535.1	NP_001185464.1	oxidation resistance protein 1 isoform 6
NM_018002.3	NP_060472.2	oxidation resistance protein 1 isoform 1
NM_181354.4	NP_851999.2	oxidation resistance protein 1 isoform 2

OXR1 Protein Structure

LysM

TLD

0
200
400
600
800
874 a.a.

Protein Preferred Names

Protein Names

oxidation resistance protein 1

TBC/LysM-associated domain containing 3

Related Diseases

Diseases

Alias

Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

CHEGDD

Cerebellar Hyplasia/Atrophy, Epilepsy, And Global Developmental Delay

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome	Doors Syndrome
Digitorenocerebral Syndrome	Autosomal Recessive Deafness-Onychodystrophy Syndrome
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome	DOORS
Drc Syndrome	Eronen Syndrome
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Brachydactyly Due To Absence Of Distal Phalanges
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome	Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome	Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome	Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Jaw Cancer

Jaw Neoplasms	Jaw Neoplasm
Neoplasm Of Jaw	Cancer Of Jaw

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-108683	ACT-335827	Antagonist	≥98.0%	Unkown
HY-RS09890	OXR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	OXR1	RGD	RGD:621857
Mus musculus	OXR1	MGD	MGI:2179326
Macaca mulatta	OXR1	VGNC	VGNC:75612
Felis catus	OXR1	VGNC	VGNC:64008
Bos taurus	OXR1	VGNC	VGNC:55069
Canis familiaris	OXR1	VGNC	VGNC:44203

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