POM121

Chr 7

POM121 transmembrane nucleoporin

Also known as: P145, POM121A

NCBI Gene: 9883 ENSG00000196313 UniProt: Q96HA1 OMIM: 615753

The protein is a transmembrane component of the nuclear pore complex that anchors the complex to the nuclear envelope and mediates nuclear transport. Mutations cause autosomal recessive developmental delay with dysmorphic facies and dental anomalies, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to haploinsufficiency.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]

OMIM ResearchGenerating clinical summary…

LOEUF 0.53

Clinical Summary— POM121

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.

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