Myopalladin

Alternative Names

  • MYPN
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OMIM Number

608517

NCBI Gene ID

84665

Uniprot ID

145257 Da

Length

124,111 bases

No. of Exons

27

No. of isoforms

3

Protein Name

Q86TC9

Molecular Mass

145257 Da

Amino Acid Count

1320

Genomic Location

chr10:68,087,907-68,212,017

Gene Map Locus
10q21.3

Description

Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032578.4:c.3335C>TLebanonchr10:68199417Benign, Likely Benign, PathogenicPathogenicCardiomyopathy, Dilated, 1KKNG_032118.1:g.98301C>T; NM_032578.4:c.3335C>T; NP_001243196.1:p.Pro1112Leu7153427831791
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