Primary Identifier | MGI:1347001 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 26363 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables biotinidase activity. Involved in biotin metabolic process. Located in apical part of cell; nucleolus; and perikaryon. Is active in extracellular region. Is expressed in blood vessel; inner ear; nervous system; and urinary system. Used to study biotinidase deficiency. Human ortholog(s) of this gene implicated in biotinidase deficiency. Orthologous to human BTD (biotinidase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit behavioral/neurological defects, weakness, bone loss, weight loss, and alopecia when fed a biotin-deprived diet. [provided by MGI curators] |