PLCXD1
Chr Yphosphatidylinositol specific phospholipase C X domain containing 1
Also known as: LL0XNC01-136G2.1
This gene encodes a protein located in the pseudoautosomal region of the X and Y chromosomes, though its specific cellular function remains unclear. Mutations in PLCXD1 cause microcephaly with simplified gyral pattern, abnormal urogenital development, and intellectual disability, typically presenting in early infancy. The gene shows low constraint against loss-of-function variants, and inheritance follows an X-linked recessive pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PLCXD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools