ACMSD - aminocarboxymuconate semialdehyde decarboxylase Gene

Homo sapiens

Gene ID: 130013 | Gene type: protein coding

About ACMSD

Cytogenetic location: 2q21.3 Genomic coordinates (GRCh38): 2:134,838,616-134,902,034 (from NCBI)

This gene has 4 transcripts (splice variants) and 199 orthologues. Biased expression in kidney (RPKM 17.3), liver (RPKM 10.7) and 1 other tissue.

Summary

The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]

ACMSD Products(2)

mRNA	Protein	Name
NM_001307983.2	NP_001294912.1	2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform 2
NM_138326.3	NP_612199.2	2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform 1

ACMSD Protein Structure

Amidohydro_2

0
100
200
300
336 a.a.

Protein Preferred Names

Protein Names

2-amino-3-carboxymuconate-6-semialdehyde decarboxylase

picolinate carboxylase

Related Diseases

Diseases

Alias

Pellagra

Niacin Deficiency	Niacin-Tryptophan Deficiency
Pellagroid Syndrome

Hydroxykynureninuria

Xanthurenic Aciduria	Kynureninase Deficiency
Kynureninase Deficiency, Partial	HYXKY
Partial Kynureninase Deficiency

Epilepsy, Familial Adult Myoclonic, 2

FAME2	Benign Adult Familial Myoclonic Epilepsy 2
Bafme2	Fcmte2
Adcme	Cortical Myoclonic Tremor With Epilepsy, Familial, 2
Cortical Myoclonus And Epilepsy, Autosomal Dominant	Familial Adult Myoclonic Epilepsy 2
Epilepsy, Myoclonic, Benign Adult Familial, Type 2	Autosomal Dominant Cortical Myoclonus And Epilepsy
Familial Cortical Myoclonic Tremor And Epilepsy 2	Epilepsy, Myoclonic, Familial Adult, Type 2

Epilepsy, Familial Adult Myoclonic, 5

FAME5	Fcmte5
Cortical Myoclonic Tremor With Epilepsy, Familial, 5	Familial Adult Myoclonic Epilepsy 5
Epilepsy, Myoclonic, Familial Adult, 5	Familial Cortical Myoclonic Tremor And Epilepsy 5
Familial Cortical Myoclonic Tremor With Epilepsy 5	Epilepsy, Myoclonic, Familial Adult, Type 5

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy	Bafme
Benign Adult Familial Myoclonic Epilepsy	Fame
Familial Cortical Myoclonic Tremor And Epilepsy	Fcmte
Adcme	Autosomal Dominant Cortical Myoclonus And Epilepsy
Fam	Epilepsy, Myoclonic, Familial Adult
Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111365	TES-1025	Inhibitor	98.12%	Unkown
HY-112619	TES-991	Inhibitor	99.65%	Unkown
HY-RS00169	ACMSD Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ACMSD	MGD	MGI:2386323
Bos taurus	ACMSD	VGNC	VGNC:25544
Canis familiaris	ACMSD	VGNC	VGNC:37512
Felis catus	ACMSD	VGNC	VGNC:59514
Rattus norvegicus	ACMSD	RGD	RGD:620868
Macaca mulatta	ACMSD	VGNC	VGNC:69476

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