Primary Identifier | MGI:98534 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 21452 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cargo receptor ligand activity and cobalamin binding activity. Involved in cobalamin transport. Is active in external side of plasma membrane and extracellular space. Is expressed in central nervous system; eye; genitourinary system; and liver. Human ortholog(s) of this gene implicated in Parkinson's disease; megaloblastic anemia; and transcobalamin II deficiency. Orthologous to human TCN2 (transcobalamin 2). PHENOTYPE: This locus controls transcobalamin-2 electrophoretic variation. The s allele determines a slow band in serum from A/J, C57BL/6, BALB/c and C3H/He; the f allele determines faster form in NZB, ST/b and CPB-WV. Heterozygotes have both forms. Sequencing reveals a Gly to Glu substitution in NZB compared to BALB/c, DBA/2 and C57BL/6 (Genbank AF090686). [provided by MGI curators] |