KIF5C gene

kinesin family member 5C

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

From NCBI Gene:

The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]

From UniProt:

Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.

From NCBI Gene:

  • Cortical dysplasia, complex, with other brain malformations 2

From UniProt:

Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2): A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum. [MIM:615282]

Cytogenetic Location: 2q23.1-q23.2, which is the long (q) arm of chromosome 2 between positions 23.1 and 23.2

Molecular Location: base pairs 148,875,223 to 149,026,759 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q23.1-q23.2, which is the long (q) arm of chromosome 2 between positions 23.1 and 23.2
  • CDCBM2
  • KINN
  • NKHC
  • NKHC-2
  • NKHC2