Gene: SBF2-AS1
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: SBF2
Alternate names for this Gene: CMT4B2|DENND7B|MTMR13
Gene Summary: This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2.
Gene is located in Chromosome: 11
Location in Chromosome : 11p15.4
Description of this Gene: SET binding factor 2
Type of Gene: protein-coding
rs1564872328 in
SBF2-AS1;SBF2 gene and
Charcot-Marie-Tooth disease type 4
PMID 12687498 2003 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.
PMID 15477569 2004 A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).
PMID 25873783 2014 Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.