Gene Symbol | SEPTIN9 |
Entrez Gene ID | 10801 |
Full Name | septin 9 |
Synonyms | AF17q25,MSF,MSF1,NAPB,PNUTL4,SINT1,SeptD1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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.[provided by RefSeq, Mar 2009]. |
Disorder MIM: | |
Disorder Html: | Leukemia, acute myeloid, therapy-related (1); Ovarian carcinoma (1); Amyotrophy, hereditary neuralgic, 162100 (3) |