PLCXD1

Chr Y

phosphatidylinositol specific phospholipase C X domain containing 1

Also known as: LL0XNC01-136G2.1

NCBI Gene: 55344 ENSG00000292344 UniProt: Q9NUJ7 OMIM: 300974

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.

OMIM ResearchSummary from RefSeq

This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.63

LOEUF

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Mechanism