AGPS - alkylglycerone phosphate synthase Gene

Homo sapiens

Also known as ADAS; ADPS; RCDP3; ADAP-S; ADHAPS; ALDHPSY

Gene ID: 8540 | Gene type: protein coding

About AGPS

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:177,392,773-177,543,834 (from NCBI)

This gene has 25 transcripts (splice variants), 209 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 7.8), endometrium (RPKM 6.7) and 25 other tissues.

Summary

This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]

AGPS Products(1)

mRNA	Protein	Name
NM_003659.4	NP_003650.1	alkyldihydroxyacetonephosphate synthase, peroxisomal precursor

AGPS Protein Structure

FAD_binding_4

FAD-oxidase_C

0
200
400
600
658 a.a.

Protein Preferred Names

Protein Names

alkyldihydroxyacetonephosphate synthase, peroxisomal

aging-associated gene 5 protein

Related Diseases

Diseases

Alias

Rhizomelic Chondrodysplasia Punctata, Type 3

Rhizomelic Chondrodysplasia Punctata Type 3	RCDP3
Alkyldihydroxyacetonephosphate Synthase Deficiency	Alkylglycerone-Phosphate Synthase Deficiency
Agps Deficiency	Rhizomelic Chondrodysplasia Punctata 3
Chondrodysplasia Punctata, Rhizomelic, Type 3

Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic	Rcdp
Chondrodysplasia Punctata, Rhizomelic Form	Rcp
Chondrodysplasia Punctata Rhizomelic

Rhizomelic Chondrodysplasia Punctata, Type 2

Rhizomelic Chondrodysplasia Punctata Type 2	Dihydroxyacetonephosphate Acyltransferase Deficiency
RCDP2	Dhapat Deficiency
Glyceronephosphate O-Acyltransferase Deficiency	Gnpat Deficiency
Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency	Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
Chondrodysplasia Punctata, Rhizomelic, Type 2	Rhizomelic Chondrodysplasia Punctata 2

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

Rhizomelic Chondrodysplasia Punctata, Type 5

Rhizomelic Chondrodysplasia Punctata Type 5	RCDP5
Rhizomelic Chondrodysplasia Punctata 5	Chondrodysplasia Punctata, Rhizomelic, Type 5

Chondrodysplasia Punctata Syndrome

Chondrodysplasia Punctata	Chondrodysplasia Punctata Congenita
Toriello Higgins Miller Syndrome	Chondrodysplasia Punctata, Toriello Type
Toriello-Higgins-Miller Syndrome	Cdp
Chondrodysplasia Punctata, X-Linked Dominant Type	Chondrodysplasia Punctata Group
Dysplasia Punctata Epiphysis	Dysplasia Punctata
Dysplasia Epiphysealis Punctata	Chondrodystrophy Of Punctata

Rhizomelic Chondrodysplasia Punctata, Type 1

Rhizomelic Chondrodysplasia Punctata Type 1	RCDP1
Peroxisome Biogenesis Disorder 9	Pbd9
Chondrodysplasia Punctata, Rhizomelic Form	Cdpr
Chondrodystrophia Calcificans Punctata	Rhizomelic Chondrodysplasia Punctata 1
Chondrodysplasia Punctata, Rhizomelic, Type 1	Chondrodysplasia Punctata, Rhizomelic

Retinal Dystrophy With Leukodystrophy

RDLKD	Acbd5 Deficiency
Dystrophy, Retinal, With Leukodystrophy

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

Refsum Disease, Classic

Refsum Disease	Heredopathia Atactica Polyneuritiformis
Phytanic Acid Oxidase Deficiency	Hmsn Iv
Refsum Disease, Adult, 1	Refsum'S Disease
Phytanic Acid Storage Disease	Hereditary Motor And Sensory Neuropathy Iv
Hmsn4	Hmsn Type Iv
Hmsn 4	Adult Refsum Disease
Classic Refsum Disease	Hereditary Motor And Sensory Neuropathy Type Iv
Refsum Syndrome	Hsmn Iv
Disorder Of Cornification 11	Doc 11
Hereditary Sensory And Motor Neuropathy Type 4	Hypertrophic Neuropathy Of Refsum
Ard	Crd
Hereditary Motor And Sensory Neuropathy Type 4	Phytanic-Coa Hydroxylase Deficiency
RD

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

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

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B1465	1-Hexadecanol		99.76%	Unkown

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153910	AGPS-IN-1		99.74%	Unkown
HY-RS00461	AGPS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AGPS	VGNC	VGNC:59689
Bos taurus	AGPS	VGNC	VGNC:25739
Mus musculus	AGPS	MGD	MGI:2443065
Canis familiaris	AGPS	VGNC	VGNC:37714
Macaca mulatta	AGPS	VGNC	VGNC:69747
Rattus norvegicus	AGPS	RGD	RGD:620364

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