NIN gene

ninein

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

From NCBI Gene:

This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]

From UniProt:

Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells. May also act as a centrosome maturation factor. May play a role in microtubule nucleation. Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules.

From NCBI Gene:

  • Seckel syndrome 7

From UniProt:

Seckel syndrome 7 (SCKL7): A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. [MIM:614851]

Cytogenetic Location: 14q22.1, which is the long (q) arm of chromosome 14 at position 22.1

Molecular Location: base pairs 50,719,763 to 50,831,121 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q22.1, which is the long (q) arm of chromosome 14 at position 22.1