Primary Identifier | MGI:894646 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 110948 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables biotin--[biotin carboxyl-carrier protein] ligase activity. Involved in biotin metabolic process. Located in mitochondrion. Is expressed in several structures, including genitourinary system; gut; nervous system; sensory organ; and thymus. Human ortholog(s) of this gene implicated in holocarboxylase synthetase deficiency. Orthologous to human HLCS (holocarboxylase synthetase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. [provided by MGI curators] |