CSPP1 gene

centrosome and spindle pole associated protein 1

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

From NCBI Gene:

This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

From UniProt:

May play a role in cell-cycle-dependent microtubule organization.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Joubert syndrome 21

From UniProt:

Joubert syndrome 21 (JBTS21): A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. [MIM:615636]

Cytogenetic Location: 8q13.1-q13.2, which is the long (q) arm of chromosome 8 between positions 13.1 and 13.2

Molecular Location: base pairs 67,062,417 to 67,196,614 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q13.1-q13.2, which is the long (q) arm of chromosome 8 between positions 13.1 and 13.2
  • CSPP
  • JBTS21