| Primary Identifier | MGI:1921831 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 319934 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including identical protein binding activity; phosphatase binding activity; and phosphatase regulator activity. Predicted to be involved in autophagy. Located in vacuolar membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut; heart; and sciatic nerve. Used to study Charcot-Marie-Tooth disease type 4B2. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B2. Orthologous to human SBF2 (SET binding factor 2). PHENOTYPE: Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
