SBF2
Gene name: SET binding factor 2OMIM ID: 607697
Chromosome location: 11p15.4
Mutations
| Disease/Phenotype | Charcot-Marie-Tooth Disease Type 4B2 |
|---|---|
| Reference transcript | NM_030962.3 |
| DNA Change | c.2875C>T |
| A.A. Change | p.Gln959X |
| Exon/Intron | exon 23 |
| Mutation Type | substitution |
| Reference | Azzedine H, Bolino A, Ta?eb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet. 2003 May;72(5):1141-53. |