NDUFB8 - NADH:ubiquinone oxidoreductase subunit B8 Gene

Also Known as ASHI; CI-ASHI; MC1DN32

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4714

About NDUFB8

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,523,729-100,529,923 (from NCBI)

This gene has 9 transcripts (splice variants), 243 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 90.4), kidney (RPKM 70.2) and 25 other tissues.

Summary

Involved in mitochondrial respiratory chain complex I assembly. Located in endoplasmic reticulum and mitochondrion. Part of mitochondrial respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parkinson's disease. [provided by Alliance of Genome Resources, Apr 2022]

NDUFB8 Products (3)

mRNA Protein Name
NM_001284367.2 NP_001271296.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 2
NM_001284368.1 NP_001271297.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 3
NM_005004.4 NP_004995.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 1 precursor

NDUFB8 Protein Structure

NDUF_B8

NDUF_B8: NADH-ubiquinone oxidoreductase ASHI subunit (CI-ASHI or NDUFB8) (7 - 186)

  • 0
  • 100
  • 186 a.a.
Protein Preferred Names Protein Names

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial

  • NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa

NDUFB8 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810676 Total OXPHOS Antibody (YA9934) WB, IHC-P Human
HY-P82202 NDUFB8 Antibody (YA1947) WB, IHC-P, ICC/IF, IP, FC Human, Mouse, Rat
HY-P86493 NDUFB8 Antibody (YA6185) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Mitochondrial Complex I Deficiency, Nuclear Type 32
  • MC1DN32

  • Mitochondrial Complex 1 Deficiency, Nuclear Type 32

  • Nuclear Type Mitochondrial Complex I Deficiency 32

Leigh Syndrome With Cardiomyopathy
  • Cardiomyopathy With Hypotonia Due To Cytochrome C Oxidase Deficiency

  • Cardiomyopathy With Myopathy Due To Cox Deficiency

  • Leigh Disease With Myopathy

Nuclear Type Mitochondrial Complex I Deficiency
  • Mc1dn

  • Mitochondrial Complex I Deficiency, Nuclear Type

  • Mitochondrial Complex I Deficiency, Nuclear

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

Leukodystrophy
  • Leukodystrophies

Myopathy
  • Muscular Diseases

  • Myopathies

Mitochondrial Myopathy
  • Mitochondrial Myopathies

  • Mitochondrial Cytopathy

  • Myopathies In Mitochondrial Disorders

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

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

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

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

Orthologs Information

Species Symbol Source ID
Mus musculus NDUFB8 MGD MGI:1914514
Rattus norvegicus NDUFB8 RGD RGD:1309129
Canis familiaris NDUFB8 VGNC VGNC:53001
Others NDUFB8 NCBI