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KLC2

From Wikipedia, the free encyclopedia

KLC2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKLC2, kinesin light chain 2
External IDsOMIM: 611729; MGI: 107953; HomoloGene: 22468; GeneCards: KLC2; OMA:KLC2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001134774
NM_001134775
NM_001134776
NM_022822
NM_001318734

NM_008451
NM_001369360
NM_001369361
NM_001369362

RefSeq (protein)

NP_001128246
NP_001128247
NP_001128248
NP_001305663
NP_073733

n/a

Location (UCSC)Chr 11: 66.26 – 66.27 MbChr 19: 5.16 – 5.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Kinesin light chain 2 is a protein that in humans is encoded by the KLC2 gene.[5][6] A mutation in this gene is responsible for SPOAN syndrome, a particular genotype of hereditary spastic paraplegia.[7][8]

Interactions

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KLC2 has been shown to interact with MAPK8IP3[9] and KIF5B.[5][10]

SPOAN syndrome

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SPOAN syndrome was first discovered by a research group led by Silvana Santos in the Serrinha dos Pintos area of Northeast Brazil known for high levels of inbreeding.[11] The name derives from an acronym for spastic paraplegia, optic atrophy, and neuropathy (SPOAN), the symptoms characteristic to the syndrome.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000174996Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024862Ensembl, 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. ^ a b Rahman A, Friedman DS, Goldstein LS (Jun 1998). "Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins". The Journal of Biological Chemistry. 273 (25): 15395–15403. doi:10.1074/jbc.273.25.15395. PMID 9624122.
  6. ^ "Entrez Gene: KLC2 kinesin light chain 2".
  7. ^ a b "Entry - #609541 - SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN - OMIM". omim.org. Retrieved 2025-05-12.
  8. ^ "SPOAN syndrome - National Organization for Rare Disorders". rarediseases.org. Retrieved 2025-05-12.
  9. ^ Bowman AB, Kamal A, Ritchings BW, Philp AV, McGrail M, Gindhart JG, et al. (Nov 2000). "Kinesin-dependent axonal transport is mediated by the sunday driver (SYD) protein". Cell. 103 (4): 583–594. doi:10.1016/S0092-8674(00)00162-8. PMID 11106729. S2CID 247102.
  10. ^ Rahman A, Kamal A, Roberts EA, Goldstein LS (Sep 1999). "Defective kinesin heavy chain behavior in mouse kinesin light chain mutants". The Journal of Cell Biology. 146 (6): 1277–1288. doi:10.1083/jcb.146.6.1277. PMC 2156125. PMID 10491391.
  11. ^ Kok F, Weller M, de Paiva FR, Otto PA, Santos S (April 2010). "Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders". Genetics and Molecular Biology. 33 (2): 220–223. doi:10.1590/S1415-47572010005000020. ISSN 1678-4685. PMC 3036858. PMID 21637472.

Further reading

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