1. Gene
  2. NDUFA13 - NADH:ubiquinone oxidoreductase subunit A13 Gene

NDUFA13 - NADH:ubiquinone oxidoreductase subunit A13 Gene

Homo sapiens

Also known as B16.6; CDA016; CGI-39; GRIM19; GRIM-19; MC1DN28

Gene ID: 51079 | Gene type: protein coding

About NDUFA13

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:19,516,225-19,528,198 (from NCBI)

This gene has 7 transcripts (splice variants), 190 orthologues and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 200.1), kidney (RPKM 160.9) and 25 other tissues.

Summary

This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]

NDUFA13 Products(1)

mRNA Protein Name
NM_015965.7 NP_057049.5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13

NDUFA13 Protein Structure

GRIM-19

GRIM-19: GRIM-19 protein (3 - 130)

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

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13

CI-B16.6

Related Diseases

Diseases Alias
Mitochondrial Complex I Deficiency, Nuclear Type 28

MC1DN28

Mitochondrial Complex 1 Deficiency, Nuclear Type 28

Nuclear Type Mitochondrial Complex I Deficiency 28

Thyroid Carcinoma, Hurthle Cell

Hurthle Cell Carcinoma Of Thyroid

Hurthle Cell Thyroid Neoplasia

Hurthle Cell Thyroid Cancer

Follicular Thyroid Cancer, Hurthle Cell Type

Hurthle Cell Carcinoma Of The Thyroid

Thyroid Cancer, Hurthle Cell

Thyroid Cancer, Follicular, Hurthle Cell Type

Hurthle Cell Thyroid Carcinoma

HCTC

Hurthle Cell Carcinoma

Thyroid Hurthle Cell Carcinoma

Adenocarcinoma, Oxyphilic

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

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

Differentiated Thyroid Carcinoma

Papillary Or Follicular Thyroid Carcinoma

Well-Differentiated Thyroid Carcinoma

Differentiated Thyroid Gland Carcinoma

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

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Adenomyosis

Endometriosis Of Uterus

Endometriosis Interna

Endometriosis Of Myometrium

Endometriosis, Myometrium

Uterine Adenomyosis

Adenomyosis Uteri

Internal Endometriosis

Thyroid Hurthle Cell Adenoma

Benign Oncocytoma Of The Thyroid

Thyroid Gland Oncocytic Adenoma

Chief Cell Adenoma

Chief Cell Adenoma Of Parathyroid Gland

Leukodystrophy

Leukodystrophies

Myopathy

Muscular Diseases

Myopathies

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
Felis catus NDUFA13 VGNC VGNC:80633
Mus musculus NDUFA13 MGD MGI:1914434
Bos taurus NDUFA13 VGNC VGNC:31946
Canis familiaris NDUFA13 VGNC VGNC:43686
Rattus norvegicus NDUFA13 RGD RGD:6492821