ABHD6 - abhydrolase domain containing 6, acylglycerol lipase Gene

Homo sapiens

Gene ID: 57406 | Gene type: protein coding

About ABHD6

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:58,237,792-58,294,734 (from NCBI)

This gene has 7 transcripts (splice variants), 235 orthologues and 12 paralogues. Broad expression in small intestine (RPKM 23.4), spleen (RPKM 18.6) and 22 other tissues.

Summary

Enables acylglycerol Lipase activity. Involved in acylglycerol catabolic process. Predicted to be located in late endosome membrane and lysosomal membrane. Predicted to be integral component of membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and mitochondrion. Predicted to be integral component of postsynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022]

ABHD6 Products(2)

mRNA	Protein	Name
NM_001320126.2	NP_001307055.1	monoacylglycerol lipase ABHD6
NM_020676.7	NP_065727.4	monoacylglycerol lipase ABHD6

ABHD6 Protein Structure

Abhydrolase_6

0
100
200
300
337 a.a.

Protein Preferred Names

Protein Names

monoacylglycerol lipase ABHD6

2-arachidonoylglycerol hydrolase

Related Diseases

Diseases

Alias

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Pharc Syndrome	PHARC
Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
Peripheral Neuropathy, Fiskerstrand Type	Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract

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

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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 (21)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100337	WWL70	Inhibitor	99.80%	Unkown
HY-101457	JZP-430		99.74%	Unkown
HY-110148	WWL113	Inhibitor	99.08%	Unkown
HY-120215	KT203	Inhibitor	99.86%	Unkown
HY-136924	FP-Biotin		99.84%	Unkown
HY-120177	KT182	Inhibitor	99.93%	Unkown
HY-132310	MAGL-IN-4	Inhibitor	99.91%	Unkown
HY-114926	KT185	Inhibitor	≥99.0%	Unkown
HY-132246	WWL123 analogue-1	Inhibitor	98.04%	Unkown
HY-18544	AA38-3	Inhibitor	99.89%	Unkown
HY-125143	ABC34	Inhibitor	99.90%	Unkown
HY-103463	SA57	Inhibitor	≥99.0%	Unkown
HY-110178	WWL123	Inhibitor	≥98.0%	Unkown
HY-116793	Dimepiperate		/	Unkown
HY-117722	JW 618	Inhibitor	/	Unkown
HY-120171	DH-376	Inhibitor	/	Unkown
HY-121422	JZP-361	Inhibitor	99.72%	Unkown
HY-124314	LEI-106	Inhibitor	/	Unkown
HY-152148	JZP-MA-11	Inhibitor	/	Unkown
HY-152152	JZP-MA-13	Inhibitor	/	Unkown
HY-RS00097	ABHD6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ABHD6	VGNC	VGNC:59486
Macaca mulatta	ABHD6	VGNC	VGNC:69492
Bos taurus	ABHD6	VGNC	VGNC:25503
Rattus norvegicus	ABHD6	RGD	RGD:1359323
Canis familiaris	ABHD6	VGNC	VGNC:37472
Mus musculus	ABHD6	MGD	MGI:1913332

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