1. Gene
  2. NDUFB6 - NADH:ubiquinone oxidoreductase subunit B6 Gene

NDUFB6 - NADH:ubiquinone oxidoreductase subunit B6 Gene

Homo sapiens

Also known as CI; B17

Gene ID: 4712 | Gene type: protein coding

About NDUFB6

Cytogenetic location: 9p21.1 Genomic coordinates (GRCh38): 9:32,553,001-32,573,159 (from NCBI)

This gene has 3 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in heart (RPKM 40.7), kidney (RPKM 36.7) 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 composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the Enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011]

NDUFB6 Products(3)

mRNA Protein Name
NM_001199987.2 NP_001186916.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 3
NM_002493.5 NP_002484.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 1
NM_182739.3 NP_877416.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 2

NDUFB6 Protein Structure

NDUF_B6

NDUF_B6: NADH:ubiquinone oxidoreductase, NDUFB6/B17 subunit (1 - 128)

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

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6

CI-B17

Related Diseases

Diseases Alias
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

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
Rattus norvegicus NDUFB6 RGD RGD:1311354
Felis catus NDUFB6 VGNC VGNC:68442
Mus musculus NDUFB6 MGD MGI:2684983
Macaca mulatta NDUFB6 VGNC VGNC:75159
Canis familiaris NDUFB6 VGNC VGNC:43704
Bos taurus NDUFB6 VGNC VGNC:31965