ABHD12

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a male, age 7, with global developmental delay, muscle weakness, a hand tremor, increased tone in the lower limbs (hypertonia), and facial differences (read full description).

Date of Report

Apr 08, 2021

Full Name

abhydrolase domain containing 12, lysophospholipase

Location

Chromosome 20 (20p11.21)

Function

ABHD12 codes for a type of signaling lipid that is involved in regulation of immunological and neurological processes (Ogasawara et al., 2018). It inactivates 2-AG by converting it into arachidonate and glycerol and have been associated with PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts) (Fiskerstrand et al., 2010).

Database Links

GeneCards: ABHD12

NCBI Gene: 26090

OMIM: 613599

UniProtKB/Swiss-Prot: Q8N2K0

Clinical Significance

A de novo change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene ABHD12

Inheritance Pattern Unknown

Position (hg19) chr20:g.25282919G>GA

Transcript NM_001042472.2

DNA Change c.1092dupT

Protein Change p.His365SerfsTer16

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