NUP37 gene

nucleoporin 37

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE

From UniProt:

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. [MIM:618179]

Cytogenetic Location: 12q23.2, which is the long (q) arm of chromosome 12 at position 23.2

Molecular Location: base pairs 102,073,962 to 102,120,131 on chromosome 12 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 12q23.2, which is the long (q) arm of chromosome 12 at position 23.2
  • MCPH24
  • p37