Plectin

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OMIM Number

601282

NCBI Gene ID

5339

Uniprot ID

Q15149

Length

61,646 bases

No. of Exons

43

No. of isoforms

9

Protein Name

Plectin

Molecular Mass

531791 Da

Amino Acid Count

4684

Genomic Location

chr8:143,915,147-143,976,792

Gene Map Locus
8q24.3

Description

Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000445.5:c.5258insGLebanonchr8:143924752PathogenicEpidermolysis Bullosa Simplex with Muscular DystrophyNG_012492.1:g.56994insG; NM_000445.5:c.5258insG; NP_958782.1:p.Glu1863Gly
NM_000445.5:c.9085C>TSaudi Arabiachr8:143920817PathogenicPathogenicEpidermolysis Bullosa Simplex with Pyloric AtresiaNG_012492.1:g.60929C>T; NM_000445.5:c.9085C>T; NP_958782.1:p.Arg3139Ter1378531618266
NM_000445.5:c.913C>TLebanonchr8:143934923PathogenicPathogenicEpidermolysis Bullosa Simplex with Pyloric AtresiaNG_012492.1:g.46823C>T; NM_000445.5:c.913C>T; NP_958782.1:p.Gln415Ter1378531608264
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