PACSIN3

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Protein kinase C and casein kinase substrate in neurons protein 3 is an enzyme that in humans is encoded by the PACSIN3 gene.[5][6]

AliasesPACSIN3, SDPIII, protein kinase C and casein kinase substrate in neurons 3
End47,186,443 bp[1]
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PACSIN3
Identifiers
AliasesPACSIN3, SDPIII, protein kinase C and casein kinase substrate in neurons 3
External IDsOMIM: 606513; MGI: 1891410; HomoloGene: 41117; GeneCards: PACSIN3; OMA:PACSIN3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_016223
NM_001184974
NM_001184975

NM_001289677
NM_001289678
NM_028733
NM_030880

RefSeq (protein)

NP_001171903
NP_001171904
NP_057307

NP_001276606
NP_001276607
NP_083009
NP_112019

Location (UCSC)Chr 11: 47.18 – 47.19 MbChr 2: 91.09 – 91.1 Mb
PubMed search[3][4]
Wikidata
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Human disease

Biallelic truncating variants in the PACSIN3 gene has been associated with hyperCKemia and childhood onset myopathy.[7]

Interactions

PACSIN3 has been shown to interact with PACSIN1[8] and PACSIN2.[8]

References

Further reading

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