Primary Identifier | MGI:1339968 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 107869 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables L-cystine L-cysteine-lyase (deaminating) and cystathionine gamma-lyase activity. Involved in several processes, including positive regulation of NF-kappaB transcription factor activity; positive regulation of canonical NF-kappaB signal transduction; and protein sulfhydration. Acts upstream of or within cellular response to leukemia inhibitory factor and negative regulation of apoptotic signaling pathway. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; cranium; ear; and genitourinary system. Used to study cystathioninuria. Human ortholog(s) of this gene implicated in amino acid metabolic disorder and cystathioninuria. Orthologous to human CTH (cystathionine gamma-lyase). PHENOTYPE: Mice homozygous for a null allele exhibit hypertension associated with impaired endothelium-dependent vasorelaxation. Mice homozygous for another knock-out allele exhibit normal blood pressure but sensitivty to a low cysteine diet. [provided by MGI curators] |