PCM1

Chr 8

pericentriolar material 1

Also known as: PTC4, RET/PCM-1

NCBI Gene: 5108 ENSG00000078674 UniProt: Q15154

PCM1 encodes a component of centriolar satellites that is essential for centrosome assembly, localization of centrosomal proteins, anchoring microtubules to the centrosome, and cilium biogenesis. Mutations cause autosomal recessive primary microcephaly with intellectual disability and growth retardation, typically presenting in infancy with severe developmental delays. This gene is highly constrained against loss-of-function variants, reflecting its critical role in cellular organization and brain development.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.58

LOEUF

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Mechanism

Some data sources returned errors (1)