| Primary Identifier | MGI:103569 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 22439 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein-macromolecule adaptor activity. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; regulation of axon diameter; and skeletal muscle fiber development. Is active in plasma membrane. Is expressed in genitourinary system; gonadal fat pad; gut; liver; and mammary gland. Human ortholog(s) of this gene implicated in McLeod syndrome and hematopoietic system disease. Orthologous to human XK (X-linked Kx blood group antigen, Kell and VPS13A binding protein). PHENOTYPE: Aging homozygous null females exhibit abnormal skeletal muscle fiber morphology and giant axon changes with variable paranodal demyelination in the spinal cord and sciatic nerve. Hemizygous males show increased corpuscular hemoglobin concentration and increased erythrocyte Ca2+ and Mg2+ ion levels. [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
