Septin 9

Alternative Names

  • SEPT9
  • MLL Septin-Like Fusion Gene
  • MSF
  • MSF1
  • Peanut-Like
  • PNUTL4
  • SINT1
  • KIAA0991
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OMIM Number

604061

NCBI Gene ID

10801

Uniprot ID

Q9UHD8

Length

220,028 bases

No. of Exons

21

No. of isoforms

9

Protein Name

Septin-9

Molecular Mass

65401 Da

Amino Acid Count

586

Genomic Location

chr17:77,280,569-77,500,596

Gene Map Locus
17q25.3

Description

This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006640.4:c.(22+1_23–1)_(293_668–1)dupLebanonPathogenicAmyotrophy, Hereditary Neuralgic
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