Gene: NDUFA13

Alternate names for this Gene: B16.6|CDA016|CGI-39|GRIM-19|GRIM19|MC1DN28

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: NADH:ubiquinone oxidoreductase subunit A13

Type of Gene: protein-coding

rs752513525 in NDUFA13 gene and Dyskinetic syndrome PMID 25901006 2015 Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

rs752513525 in NDUFA13 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 25901006 2015 Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

rs143378367 in NDUFA13 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.