ACP6 Chromosome 1

Acid phosphatase 6, lysophosphatidic

1 variant 1 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

Acid phosphatases

Locus Type

gene with protein product

Location

1q21.2

Ensembl

ENSG00000162836

Associated Conditions (1)

Cerebral visual impairment and intellectual disability

Key Variants

RS144959805

Likely pathogenic

Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS144959805	Health Risk	Likely pathogenic	Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability