MT-ND4L - mitochondrially encoded NADH 4L dehydrogenase Gene

Also Known as MTND4L; ND4L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4539

Summary

Predicted to enable NADH dehydrogenase (ubiquinone) activity. Predicted to be located in mitochondrial inner membrane. Implicated in Leber hereditary optic neuropathy and diabetes mellitus. [provided by Alliance of Genome Resources, Apr 2022]

MT-ND4L Products (1)

mRNA	Protein	Name
YP_003024034.1 NADH dehydrogenase subunit 4L (mitochondrion) [Homo sapiens]

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables NADH dehydrogenase (ubiquinone) activity	IDA IDA: Inferred from direct assay	28844695	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	28844695	GOA
part of respiratory chain complex I	IDA IDA: Inferred from direct assay	28844695	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MT-ND4L Protein Structure

Oxidored_q2

0
98 a.a.

Protein Preferred Names	Protein Names
NADH dehydrogenase subunit 4L

Related Diseases

Diseases	Alias
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Familial Colorectal Cancer	Colorectal Cancer, Familial
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Hereditary Optic Neuropathy
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Fasciolopsiasis	Infection By Fasciolopsis Buski Infectious Disease By Fasciolopsis Intestinal Distomatosis Intestinal Distoma Giant Intestinal Fluke Infection Fasciolopsis Buski Infection Infection By Fasciolopsis Busk Fluke Infection Intestinal Fluke Infestation Infestation By Fasciolopsis Intestinal Distomiasis Intestinal Fluke Disease Intestinal Fluke Infection
Ancylostomiasis	Ankylostomiasis Hookworm Infection Hookworm Infections Ancylostomiasis Due To Ancylostoma Duodenale Ancylostoma Duodenale Infection
Sparganosis	Infection By Sparganum Larval Diphyllobothriasis Spirometrosis Infection By Spirometra Larvae Larval Dibothriocephaliasis Sparganosis - Larval Diphyllobothriasis Spirometriosis Larval Dibothriocephalus Infestation Larval Diphyllobothrium Infestation Larval Dibothriocephalus Infection Due To Sparganum Larval Fish Tapeworm Infection Spirometra Larvae Infestation Sparganum Infestation Larval Bothriocephalus Infestation
Echinostomiasis	Infection By Echinochasmus
Progressive Myoclonus Epilepsy 9	Emp9 Pme Type 9 Progressive Myoclonic Epilepsy Due To Lmnb2 Deficiency Progressive Myoclonus Epilepsy Type 9
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation	Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability COB1 Coloboma-Microphthalmos Syndrome Coloboma-Microphthalmos Syndrome Associated With Sensorineural Hearing Loss, Hematuria, And Cleft Lip/Palate Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome Ocular Coloboma With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation Uveal Coloboma-Cleft Lip/Palate-Mental Retardation Syndrome Uveal Coloboma-Cleft Lip/Palate-Intellectual Disability Syndrome Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Intellectual Disability Coloboma, Ocular, With/Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Thelaziasis	Infection By Thelazia
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Gliofibroma
Spherocytosis, Type 2	Hereditary Spherocytosis Type 2 SPH2 Spherocytosis, Hereditary, 2 Hs2 Hereditary Spherocytosis 2 Spherocytosis 2 Spherocytosis, Type 2, Autosomal Dominant
Myiasis	Infestation By Fly Larvae Infestation By Maggots Maggot Infestation Infestation By Larvae Of Flies Infestation By Dermatobia Infestation By Estrus Ovis Infestation By Oestrus Ovis Oestriasis Oestrosis
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Merrf Syndrome MERRF Fukuhara Syndrome Myoclonic Epilepsy Associated With Ragged Red Fibers Myoencephalopathy Ragged-Red Fiber Disease Myoclonic Epilepsy - Ragged Red Fibers Myoclonus Epilepsy And Ragged Red Fibers Myoclonus With Epilepsy And With Ragged Red Fibers Myoclonic Epilepsy With Ragged Red Fibers Myoclonic Epilepsy With Ragged-Red Fibers Fukuhara Disease Myoclonus Epilepsy Associated With Ragged-Red Fibres Myoclonus With Epilepsy With Ragged Red Fibers
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08800	MT-ND4L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown