ACO2 - aconitase 2 Gene

Also Known as ICRD; OCA8; OPA9; ACONM; HEL-S-284

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50

About ACO2

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,469,117-41,528,974 (from NCBI)

This gene has 32 transcripts (splice variants), 260 orthologues, 2 paralogues and is associated with 6 phenotypes. Broad expression in heart (RPKM 162.7), kidney (RPKM 93.6) and 24 other tissues.

Summary

The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]

ACO2 Products (1)

mRNA	Protein	Name
NM_001098.3	NP_001089.1	aconitate hydratase, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables iron ion binding	IDA IDA: Inferred from direct assay	9630632	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within citrate metabolic process	IDA IDA: Inferred from direct assay	9630632	GOA
acts upstream of or within tricarboxylic acid cycle	IDA IDA: Inferred from direct assay	9630632	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACO2 Protein Structure

Aconitase

Aconitase_C

0
200
400
600
780 a.a.

Protein Preferred Names	Protein Names
aconitate hydratase, mitochondrial	aconitase 2, mitochondrial

Recombinant ACO2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74432	Aconitase 2/ACO2 Protein, Human (sf9, His-GST)	Q99798 (Q28-Q780)	≥ 90%, as determined by reducing SDS-PAGE.

ACO2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82406	Aconitase 2 Antibody (YA2151)	WB, IHC-P, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Infantile Cerebellar-Retinal Degeneration	ICRD Infantile Cerebellar Retinal Degeneration Degeneration, Cerebellar-Retinal, Infantile
Optic Atrophy 9	OPA9 Atrophy, Optic, Type 9
Autosomal Recessive Isolated Optic Atrophy	Autosomal Recessive Non-Syndromic Optic Atrophy
Fumarase Deficiency	Fumaric Aciduria FMRD Fumarate Hydratase Deficiency Deficiency, Fumarase
Athetosis
Retinal Degeneration	Degeneration Of Retina
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures	OPA10 Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures Optic Atrophy 10 Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic Atrophy 7 OPA7 Autosomal Recessive Optic Atrophy, Opa7 Type Optic Atrophy-7 Atrophy, Optic, Type 7, With/Without Auditory Neuropathy
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Pontocerebellar Hypoplasia, Type 1e	Pontocerebellar Hypoplasia Type 1 PCH1E Norman Disease Pch1 Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia Type 1e Pontocerebellar Hypoplasia 1e Doid:0112322 Doid:0112330
Acute Tympanitis	Acute Myringitis
Behr Syndrome	BEHRS Abortive Cerebellar Ataxia Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss Obsolete: Behr Syndrome Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Combined Oxidative Phosphorylation Deficiency 37	COXPD37
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00171	ACO2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18460	Aco2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24941	Aco2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ACO2	VGNC	VGNC:37514
Bos taurus	ACO2	VGNC	VGNC:25546
Rattus norvegicus	ACO2	RGD	RGD:621360
Macaca mulatta	ACO2	VGNC	VGNC:69379
Mus musculus	ACO2	MGD	MGI:87880
Felis catus	ACO2	VGNC	VGNC:59516
Others	ACO2	NCBI