NDUFB11 - NADH:ubiquinone oxidoreductase subunit B11 Gene

Homo sapiens

Also known as ESSS; Np15; P17.3; NP17.3; CI-ESSS; MC1DN30

Gene ID: 54539 | Gene type: protein coding

About NDUFB11

Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38): X:47,142,216-47,145,491 (from NCBI)

This gene has 8 transcripts (splice variants), 203 orthologues and is associated with 6 phenotypes. Ubiquitous expression in adrenal (RPKM 29.1), heart (RPKM 25.4) and 25 other tissues.

Summary

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]

NDUFB11 Products(2)

mRNA	Protein	Name
NM_001135998.3	NP_001129470.1	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial isoform 2
NM_019056.7	NP_061929.2	NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial isoform 1

NDUFB11 Protein Structure

ESSS

0
100
153 a.a.

Protein Preferred Names

Protein Names

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 30

MC1DN30	Mitochondrial Complex 1 Deficiency, Nuclear Type 30
Nuclear Type Mitochondrial Complex I Deficiency 30

Linear Skin Defects With Multiple Congenital Anomalies 3

LSDMCA3	Linear Skin Defects With Cardiomyopathy And Other Congenital Anomalies
Skin Defects, Linear, With Multiple Congenital Anomalies, Type 3

Linear Skin Defects With Multiple Congenital Anomalies 1

Midas Syndrome	Mcops7
Mls Syndrome	Microphthalmia, Syndromic 7
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia With Linear Skin Defects
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome	Syndromic Microphthalmia Type 7
LSDMCA1	Mls
Microphthalmia, Dermal Aplasia, And Sclerocornea	Microphthalmia With Linear Skin Defect Syndrome
Syndromic Microphthalmia 7	Linear Skin Defects With Multiple Congenital Anomalies
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome	Microphthalmia Dermal Aplasia And Sclerocornea Syndrome
Micropthalmia Syndromic 7	Microphthalmia Syndromic 7
Microphthalmia With Linear Skin Lesions Syndrome	Syndromic Microphthalmia-7
Microphthalmia, Dermal Aplasia And Sclerocornea	Microphthalmia, Syndromic, 7
Midas

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

Cardiomyopathy, Infantile Histiocytoid

Histiocytoid Cardiomyopathy	Foamy Myocardial Transformation Of Infancy
Infantile Histiocytoid Cardiomyopathy	Infantile Xanthomatous Cardiomyopathy
Oncocytic Cardiomyopathy	Cardiomyopathy, Infantile Xanthomatous
Cardiomyopathy, Focal Lipid	Cardiomyopathy, Oncocytic
Focal Lipid Cardiomyopathy	Infantile Cardiomyopathy With Histiocytoid Change
CMIH	Cardiomyopathy Focal Lipid
Cardiomyopathy Infantile Xanthomatous	Cardiomyopathy Oncocytic

Optic Atrophy 2

OPA2	Optic Atrophy, X-Linked
Optic Atrophy, Non-Leber Type, With Early Onset	Optic Atrophy 2, X-Linked
X-Linked Optic Atrophy 2	Early-Onset X-Linked Optic Atrophy
Non-Leber Type Optic Atrophy With Early-Onset	Optic Atrophy Type 2
Atrophy, Optic, Type 2

Orbital Cyst

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

Sclerocornea

Isolated Congenital Sclerocornea

Leukodystrophy

Leukodystrophies

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Myopathy

Muscular Diseases

Myopathies

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

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-RS09146	NDUFB11 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NDUFB11	RGD	RGD:1563698
Mus musculus	NDUFB11	MGD	MGI:1349919
Bos taurus	NDUFB11	VGNC	VGNC:31961
Felis catus	NDUFB11	VGNC	VGNC:63761
Canis familiaris	NDUFB11	VGNC	VGNC:43700

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