ABHD4 - abhydrolase domain containing 4, N-acyl phospholipase B Gene

Homo sapiens

Also known as ABH4

Gene ID: 63874 | Gene type: protein coding

About ABHD4

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:22,598,300-22,612,963 (from NCBI)

This gene has 10 transcripts (splice variants), 203 orthologues and 12 paralogues. Ubiquitous expression in testis (RPKM 27.9), gall bladder (RPKM 15.6) and 25 other tissues.

Summary

Predicted to enable lysophosphatidic acid Acyltransferase activity and lysophospholipase activity. Predicted to be involved in N-acylphosphatidylethanolamine metabolic process; lipid homeostasis; and phosphatidic acid biosynthetic process. Predicted to act upstream of or within N-acylethanolamine metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in lipid droplet and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

ABHD4 Products(2)

mRNA	Protein	Name
NM_001392009.1	NP_001378938.1	(Lyso)-N-acylphosphatidylethanolamine lipase isoform b
NM_022060.3	NP_071343.2	(Lyso)-N-acylphosphatidylethanolamine lipase isoform a

ABHD4 Protein Structure

Abhydrolase_6

0
100
200
300
342 a.a.

Protein Preferred Names

Protein Names

(Lyso)-N-acylphosphatidylethanolamine lipase

abhydrolase domain-containing protein 4

Recombinant ABHD4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76133	ABHD4 Protein, Human (sf9, His)	Q8TB40 (M1-D342)	≥95%

Related Diseases

Diseases

Alias

Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease	CDS
Neutral Lipid Storage Disease With Ichthyosis	Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation
Triglyceride Storage Disease With Ichthyosis	Nlsdi
Ichthyotic Neutral Lipid Storage Disease	Dorfman-Chanarin Syndrome
Dcs	Chanarin-Dorfman Disease
Ichthyosiform Erythroderma With Leukocyte Vacuolation	Lipidosis With Triglyceride Storage Disease
Disorder Of Cornification 12	Dorfman Chanarin Syndrome
Neutral Lipid Storage Disease With Ichthyotic	Dorfman-Chanarin Disease

Oliver-Mcfarlane Syndrome

Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	OMCS
Long Eyelashes-Intellectual Disability Syndrome	Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina
Eyelashes, Long, With Mental Retardation	Eyelashes Long Mental Retardation
Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration	Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina
Eyelashes, Long With Intellectual Disability	Oliver Mcfarlane Syndrome
Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature	Trichomegaly, Retina Pigmentary Degeneration, Dwarfism
Trichomegaly Retina Pigmentary Degeneration Dwarfism

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00095	ABHD4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ABHD4	VGNC	VGNC:37470
Bos taurus	ABHD4	VGNC	VGNC:25501
Mus musculus	ABHD4	MGD	MGI:1915938
Felis catus	ABHD4	VGNC	VGNC:80774
Rattus norvegicus	ABHD4	RGD	RGD:1311858
Macaca mulatta	ABHD4	VGNC	VGNC:84296
Others	ABHD4	NCBI

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