ACO2 - aconitase 2 Gene

Homo sapiens

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

Gene ID: 50 | Gene type: protein coding

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

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)	≥95%

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00171	ACO2 Human Pre-designed siRNA Set A		/	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