| Primary Identifier | MGI:1341878 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 13660 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity and small GTPase binding activity. Involved in several processes, including cholesterol homeostasis; low-density lipoprotein particle clearance; and positive regulation of cholesterol storage. Acts upstream of or within endocytosis and endosomal transport. Located in several cellular components, including cytoplasmic vesicle; lipid droplet; and platelet dense tubular network membrane. Is expressed in several structures, including branchial arch; genitourinary system; limb bud; musculoskeletal system; and retina layer. Orthologous to human EHD1 (EH domain containing 1). PHENOTYPE: Mice homozygous for a knock-out allele show perinatal and postnatal lethality, decreased body weight, and male infertility due to defective spermatogenesis; female homozygotes may display malocclusion and variable ocular defects, including congenital central cataracts. [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
