Primary Identifier | MGI:106911 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 15159 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable heme binding activity and holocytochrome-c synthase activity. Predicted to be involved in cytochrome c-heme linkage. Is active in cytosol and mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study microphthalmia. Human ortholog(s) of this gene implicated in linear skin defects with multiple congenital anomalies 1 and microphthalmia. Orthologous to human HCCS (holocytochrome c synthase). PHENOTYPE: Homozygous female or hemizygous males for a conditional allele activated in the heart exhibit fetal lethality associated with abnormal fetal cardiomyocyte morphology and physiology. [provided by MGI curators] |