ADI1 - acireductone dioxygenase 1 Gene

Homo sapiens

Also known as ARD; APL1; ARD'; SIPL; mtnD; Fe-ARD; MTCBP1; Ni-ARD; HMFT1638

Gene ID: 55256 | Gene type: protein coding

About ADI1

Cytogenetic location: 2p25.3 Genomic coordinates (GRCh38): 2:3,497,366-3,519,531 (from NCBI)

This gene has 3 transcripts (splice variants), 1 gene allele and 195 orthologues. Ubiquitous expression in liver (RPKM 66.3), kidney (RPKM 48.9) and 24 other tissues.

Summary

This gene encodes an Enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This Enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

ADI1 Products(2)

mRNA	Protein	Name
NM_001306077.2	NP_001293006.1	acireductone dioxygenase isoform 2
NM_018269.4	NP_060739.2	acireductone dioxygenase isoform 1

ADI1 Protein Structure

ARD

0
100
179 a.a.

Protein Preferred Names

Protein Names

acireductone dioxygenase

MT1-MMP cytoplasmic tail-binding protein-1

Related Diseases

Diseases

Alias

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

CMTX6	Charcot-Marie-Tooth Disease X-Linked Dominant 6
Cmt6x	X-Linked Charcot-Marie-Tooth Disease Type 6
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6	Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6
Charcot-Marie-Tooth Neuropathy X-Linked 6	Charcot-Marie-Tooth Disease, X-Linked, Type 6

Leber Optic Atrophy And Dystonia

LDYT	Marsden Syndrome
Leber Hereditary Optic Neuropathy With Dystonia	Leber Hereditary Optic Neuropathy And Dystonia
Familial Dystonia With Visual Failure And Striatal Lucencies	Dystonia, Familial, With Visual Failure And Striatal Lucencies
Leber Optic Atrophy With Dystonia	Dystonia Familial, With Visual Failure And Striatal Lucencies
Lhon And Dystonia	Leber'S Hereditary Optic Neuropathy With Dystonia

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 Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

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-RS00376	ADI1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ADI1	VGNC	VGNC:79982
Mus musculus	ADI1	MGD	MGI:2144929
Macaca mulatta	ADI1	VGNC	VGNC:69738
Rattus norvegicus	ADI1	RGD	RGD:727828
Bos taurus	ADI1	VGNC	VGNC:25675