Abhydrolase Domain-Containing Protein 12

Alternative Names

ABHD12

Length

96,241 bases

No. of Exons

No. of isoforms

Protein Name

Lysophosphatidylserine Lipase ABHD12

Molecular Mass

45097 Da

Amino Acid Count

398

Genomic Location

chr20:25,294,742-25,390,982

Gene Map Locus

20p11.21

Description

The ABHD12 gene encodes a lysophospholipase enzyme responsible for the hydrolysis of a class of lipid transmitters in the endocannabinoid system. It is thus involved in the regulation of several key cellular processes including neurotransmission and inflammatory response.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
14 kb Del NC_000020.11:g.25383511_25397601delinsGG	United Arab Emirates	NC_000020.11:g.25383511_25397601delinsGG	Pathogenic	Pathogenic	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract			25
NM_001042472.3:c.193C>T	Lebanon	chr20:25339350	Pathogenic	Pathogenic	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	NG_028119.1:g.56633C>T; NM_001042472.3:c.193C>T; NP_001035937.1:p.Arg65Ter	758316679	438130
NM_001042472.3:c.846_852dup	Algeria	NC_000020.11:g.25307984_25307990dup	Pathogenic	Pathogenic	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	NG_028119.1:g.87996_88002dup; NM_001042472.3:c.846_852dup; NP_001035937.1:p.His285Ter	397704714	26
NM_015600.5:c.1158-2803_1158-2799dup	United Arab Emirates	NC_000020.11:g.25297830_25297834dup				NG_028119.1:g.98150_98154dup; NM_015600.5:c.1158-2803_1158-2799dup; NP_056415.1:p.?	16438

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ABHD12

Contributors

Pratibha Nair: 15.03.2022
Sayeeda Hana: 09.02.2020

Edit History

Pratibha Nair: 07.07.2022
Pratibha Nair: 15.03.2022
Sayeeda Hana: 09.02.2020

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