NUP37 Chromosome 12

Nucleoporin 37

3 variants 3 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"WD repeat domain containing|Nucleoporins"

Locus Type

gene with protein product

Location

12q23.2

Ensembl

ENSG00000075188

Associated Conditions (3)

Microcephaly 24

primary

autosomal recessive

Key Variants

RS746341112

Likely pathogenic

Microcephaly 24, primary, autosomal recessive

Health Risk

RS1309880692

Pathogenic

Microcephaly 24, primary, autosomal recessive

Health Risk

RS770156086

Pathogenic

Microcephaly 24, primary, autosomal recessive

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS746341112	Health Risk	Likely pathogenic	Microcephaly 24, primary, autosomal recessive
RS1309880692	Health Risk	Pathogenic	Microcephaly 24, primary, autosomal recessive
RS770156086	Health Risk	Pathogenic	Microcephaly 24, primary, autosomal recessive