RMND1 - required for meiotic nuclear division 1 homolog Gene

Homo sapiens

Also known as RMD1; C6orf96; COXPD11; bA351K16; bA351K16.3

Gene ID: 55005 | Gene type: protein coding

About RMND1

Cytogenetic location: 6q25.1 Genomic coordinates (GRCh38): 6:151,404,762-151,452,126 (from NCBI)

This gene has 25 transcripts (splice variants), 202 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 10.9), kidney (RPKM 10.5) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

RMND1 Products(2)

mRNA	Protein	Name
NM_001271937.2	NP_001258866.1	required for meiotic nuclear division protein 1 homolog isoform 2
NM_017909.4	NP_060379.2	required for meiotic nuclear division protein 1 homolog isoform 1

RMND1 Protein Structure

DUF155

0
100
200
300
400
449 a.a.

Protein Preferred Names

Protein Names

required for meiotic nuclear division protein 1 homolog

Related Diseases

Diseases

Alias

Combined Oxidative Phosphorylation Deficiency 11

COXPD11	Combined Oxidative Phosphorylation Defect Type 11
Infantile Encephaloneuromyopathy Due To Mitochondrial Translation Defect	Encephaloneuromyopathy, Infantile, Due To Mitochondrial Translation Defect
Combined Oxidative Phosphorylation Deficiency, Type 11

Mitochondrial Oxidative Phosphorylation Disorder

Oxphos Disease	Mitochondrial Respiratory Chain Disorders
Oxphos - [Oxidative Phosphorylation] Diseases

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Juvenile Nephronophthisis

Nephronophthisis

Nephronophthisis, Familial Juvenile

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Combined Oxidative Phosphorylation Deficiency

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

Bsnd	Sensorineural Deafness With Mild Renal Dysfunction
Bartter Disease Type 4a	BARTS4A
Bartter Syndrome, Type 4a	Bartter Syndrome Type 4
Bartter Syndrome, Neonatal, With Sensorineural Deafness	Bartter Syndrome With Sensorineural Deafness
Bartter Syndrome Type 4a	Neonatal Bartter Syndrome With Sensorineural Deafness
Bartter Syndrome Type Iv	Bartter Syndrome With Sensorineural Hearing Loss
Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness	Hyperprostanglandin E Syndrome 4
Hypokalemic Alkalosis With Hypercalciuria Antenatal 4	Infantile Bartter Syndrome With Sensorineural Deafness

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Lethal Restrictive Dermopathy

Hyperkeratosis-Contracture Syndrome	Tight Skin Contracture Syndrome
Tight Skin Contracture Syndrome, Lethal	Dermopathy, Restrictive, Lethal

Leukoencephalopathy, Cystic, Without Megalencephaly

Cystic Leukoencephalopathy Without Megalencephaly	Rnaset2-Deficient Cystic Leukoencephalopathy
Rnase T2-Deficient Leukoencephalopathy	Clwm
Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts	Infantile-Onset Rnaset2 Deficient Cystic Leukoencephalopathy
Lbatc	LCWM

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12016	RMND1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RMND1	MGD	MGI:1913334
Macaca mulatta	RMND1	VGNC	VGNC:76797
Rattus norvegicus	RMND1	RGD	RGD:1309546
Bos taurus	RMND1	VGNC	VGNC:33995
Canis familiaris	RMND1	VGNC	VGNC:53761
Felis catus	RMND1	VGNC	VGNC:64653

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