NUP37

Chr 12AR

nucleoporin 37

Also known as: MCPH24, p37

NCBI Gene: 79023 ENSG00000075188 UniProt: Q8NFH4 OMIM: 609264

NUP37 encodes a component of the Nup107-160 subcomplex that is essential for nuclear pore complex assembly and for proper kinetochore-microtubule attachment during mitosis. Mutations cause primary microcephaly with autosomal recessive inheritance, though the phenotype requires further confirmation as indicated by the question mark designation. The gene shows very low constraint against loss-of-function variants (pLI near 0), which is consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Nuclear pore complexes (NPCs) are used for transporting macromolecules between the cytoplasm and the nucleus. NPCs consist of multiple copies of 30 distinct proteins (nucleoporins), which assemble into biochemically-separable subcomplexes. The protein encoded by this gene is part of a subcomplex (Nup107-160) that is required for proper NPC function as well as for normal kinetochore-microtubule interaction and mitosis. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.931 OMIM phenotype

Clinical Summary— NUP37

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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