Cytoskeleton associated protein 2 like

Cytoskeleton associated protein 2 like is a protein that in humans is encoded by the CKAP2L gene. [5]

CKAP2L
Identifiers
AliasesCKAP2L, cytoskeleton associated protein 2 like
External IDsOMIM: 616174; MGI: 1917716; HomoloGene: 51866; GeneCards: CKAP2L; OMA:CKAP2L - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001304361
NM_152515

NM_181589

RefSeq (protein)

NP_001291290
NP_689728

NP_853620

Location (UCSC)Chr 2: 112.74 – 112.76 MbChr 2: 129.11 – 129.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015].

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169607Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048327Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Cytoskeleton associated protein 2 like". Retrieved 2018-05-24.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.