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FLASH GENE

Symbol

SDHA

contributors: mct - updated : 07-01-2014

HGNC name	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
HGNC id	10680

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMD1GG cardiomyopathy, dilated, 1GG PGL5 hereditary paraganglioma 5 SDHAD succinate CoQ reductase deficiency
Location	5p15.33      Physical location : 218.355 - 256.812
Synonym name	flavoprotein subunit of complex II
Synonym symbol(s)	FPJ, SDH2, SDHF, FP, SDH1, CMD1GG
EC.number	1.3.5.1

DNA

TYPE	functioning gene
STRUCTURE	38.46 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004168 15 - 2405 NP_004159 - 664 cervical carcinoma and paraganglioma 2007 17376234 variant 2 - - - isoform 2 - - in the Burkitt lymphoma and paraganglioma 2005 16195397

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains

characteristic cysteine triplet FAD binding domain

HOMOLOGY

interspecies

homolog to C.elegans c03g5.1

Homologene

FAMILY

CATEGORY

enzyme

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

basic FUNCTION	catalyzing the seventh step of the citric acid cycle, i.e. oxidation of succinate to fumarase
	play a role in mitochondrial oxidative phosphorylation
	a crucial dosage-dependent role for SDHA, SDHB in oxygen homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

complex II of mitochondrial respiratory chain, oxidative phosphorylation,(OXPHOS)

INTERACTION

DNA

RNA

small molecule

protein

SDHA and SDHB interacted specifically with SIRT3 (SIRT3 may be an important physiological regulator of SDH activity)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SDHAD , PGL5 , CMD1GG

Susceptibility

to oligospermia

Variant & Polymorphism SNP	SDHA c.456+32G>A) showed significant genotype association with impairment of sperm production

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS