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FLASH GENE

Symbol

NDUFS4

contributors: mct - updated : 29-09-2010

HGNC name	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
HGNC id	7711

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMTND1 mitochondrial complex 1 deficiency 1 NDUFS4 mitochondrial encephalomyopathy, Leigh like syndrome or Leigh syndrome
Location	5q11.2      Physical location : 52.856.464 - 52.979.171
Synonym name	iron-sulfur protein 4/18kDa subunit of complex 1of respiratory chain
	mitochondrial respiratory chain, complex 1, 18kDa subunit
	complex I 18kDa subunit
	complex I-AQDQ
Synonym symbol(s)	AQDQ, NUYM, CI-18, CI-AQDQ
EC.number	1.6.99.3

DNA

TYPE	functioning gene
STRUCTURE	122.71 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002495 5 - 676 NP_002486 20.1 175 - 2002 PMID: 119434 also called NDUFS4N variant 2 - - - isoform 2 - - . mitochondrial . subunit 2002 PMID: 119434 also called NDUFS4M

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Endocrine pancreas         Nervous brain         Reproductive male system prostate       Respiratory lung

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

extrinsic domain, mitochondrial signal peptide

secondary structure

seven subunit mitochondrial, 34 subunit nuclear, forty different subunits

mono polymer

polymer

isoforms

Precursor

precursor of 18kDa

HOMOLOGY

interspecies

homolog to murine Ndufs4

Homologene

FAMILY

complex I NDUFS4 subunit family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
	intracellular,nucleus

basic FUNCTION

NADH ubiquitine dehydrogenase (Q reductase), assembly of a functional complex 1

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NDUFS4 , CMTND1

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS