Primary Identifier | MGI:109533 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 11306 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ABC-type iron-sulfur cluster transporter activity and protein homodimerization activity. Involved in several processes, including intracellular iron ion homeostasis; positive regulation of heme biosynthetic process; and positive regulation of iron-sulfur cluster assembly. Located in mitochondrial inner membrane. Is expressed in several structures, including adrenal gland; central nervous system; gut; hemolymphoid system gland; and retina. Human ortholog(s) of this gene implicated in X-linked sideroblastic anemia with ataxia. Orthologous to human ABCB7 (ATP binding cassette subfamily B member 7). PHENOTYPE: Hemizygous male and heterozygous female mice carrying a maternally inherited null allele display prenatal lethality. [provided by MGI curators] |