NUP37
Function
Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.
Involvement in disease
Microcephaly 24, primary, autosomal recessive
MCPH24
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH24 patients additionally manifest mildly impaired intellectual development, cerebellar vermis hypoplasia, and fifth finger clinodactyly.
None
The disease may be caused by variants affecting the gene represented in this entry.
Cellular localization
- Chromosome
- Centromere
- Kinetochore
- Nucleus
- Nuclear pore complex
Alternative names
Nucleoporin Nup37, p37, Nup107-160 subcomplex subunit Nup37, NUP37