ACP6

Chr 1

acid phosphatase 6, lysophosphatidic

Also known as: ACPL1, LPAP, PACPL1

NCBI Gene: 51205 ENSG00000162836 UniProt: Q9NPH0 OMIM: 611471

The protein hydrolyzes lysophosphatidic acid to monoacylglycerol, regulating lipid composition and G protein-coupled receptor signaling pathways. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, seizures, and brain malformations. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2016]

OMIM ResearchGenerating clinical summary…

LOEUF 1.39

Clinical Summary— ACP6

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Explore recent and relevant literature in Research Assistant →