ABHD3

Chr 18

abhydrolase domain containing 3, phospholipase

Also known as: LABH3

NCBI Gene: 171586 ENSG00000158201 UniProt: Q8WU67 OMIM: 612197

The protein encoded by this gene is a phospholipase that cleaves myristate-containing phosphatidylcholines and other medium-chain phospholipids, contributing to phospholipid remodeling. Biallelic mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically presenting in early childhood. The gene shows very low constraint against loss-of-function variants (pLI near 0), consistent with recessive inheritance requiring biallelic mutations for disease manifestation.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)