DDHD2

Chr 8

DDHD domain containing 2

Also known as: SAMWD1, SPG54, iPLA(1)gamma, iPLA1A, iPLA1gamma, p125B

NCBI Gene: 23259 ENSG00000085788 UniProt: O94830

The protein is a phospholipase enzyme that participates in membrane trafficking between the endoplasmic reticulum and Golgi body. Mutations cause autosomal recessive spastic paraplegia 54 through disruption of this intracellular membrane transport function.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 54, autosomal recessive

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.77

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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