1. Gene
  2. AGPS - alkylglycerone phosphate synthase Gene

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_binding_4: FAD binding domain (206 - 345)

FAD-oxidase_C

FAD-oxidase_C: FAD linked oxidases, C-terminal domain (384 - 654)

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  • 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

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