Downstream of Tyrosine Kinase 7

Alternative Names

  • DOK7
  • Chromosome 4 Open Reading Frame 25
  • C4ORF25
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OMIM Number

610285

NCBI Gene ID

285489

Uniprot ID

Q18PE1

Length

38,171 bases

No. of Exons

12

No. of isoforms

4

Protein Name

Protein Dok-7

Molecular Mass

53097 Da

Amino Acid Count

504

Genomic Location

chr4:3,463,306-3,501,476

Gene Map Locus
4p16.3

Description

The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_173660.5:c.1124_1127dupUnited Arab EmiratesNC_000004.12:g.3493110_3493113dupPathogenicLikely PathogenicMyasthenic Syndrome, Congenital, 10NG_013072.2:g.34805_34808dup; NM_173660.5:c.1124_1127dup; NP_775931.3:p.Ala378SerfsTer306062311281273
NM_173660.5:c.1457dupUnited Arab EmiratesNC_000004.12:g.3493443dupLikely PathogenicMyasthenic Syndrome, Congenital, 10NG_013072.2:g.35138dup; NM_173660.5:c.1457dup; NP_775931.3:p.Ala487GlyfsTer32
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