MT-ND4L mitochondrially encoded NADH 4L dehydrogenase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT-ND4Lprovided by HGNC
Official Full Name: mitochondrially encoded NADH 4L dehydrogenaseprovided by HGNC
Primary source: HGNC:HGNC:7460
See related: MIM:516004; AllianceGenome:HGNC:7460
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTND4L; ND4L
Summary: Enables NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in ATP synthesis coupled electron transport and proton transmembrane transport. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy and diabetes mellitus. [provided by Alliance of Genome Resources, Nov 2024]
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Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	MT (non-nuclear)	NC_012920.1 (10470..10766)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (10470..10766)

Chromosome MT - NC_012920.1 Genomic Context describing neighboring genes

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Observational study of gene-disease association. (HuGE Navigator)
Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
Point mutation of PCLN-1 is associated with familial hypomagnesemia with hypercalciuria
Title: A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype.

Submit: New GeneRIF Correction

Description	Tests
Leber optic atrophy MedGen: C0917796 OMIM: 535000 GeneReviews: Leber Hereditary Optic Neuropathy, Primary Mitochondrial Disorders Overview	Compare labs

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

Function	Evidence Code	Pubs
enables NADH dehydrogenase (ubiquinone) activity	IDA Inferred from Direct Assay more info	PubMed
enables NADH dehydrogenase (ubiquinone) activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	NAS Non-traceable Author Statement more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HTP more info	PubMed
part_of respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex I	NAS Non-traceable Author Statement more info	PubMed