| Primary Identifier | MGI:2138281 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 98386 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables delta14-sterol reductase activity. Involved in cholesterol biosynthetic process and neutrophil differentiation. Located in nuclear membrane. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and liver. Used to study Pelger-Huet anomaly; ichthyosis vulgaris; and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in Greenberg dysplasia; Pelger-Huet anomaly; and primary biliary cholangitis. Orthologous to human LBR (lamin B receptor). PHENOTYPE: Mutations in this gene result in abnormal skin and hair and impair growth. [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
