Ψ CASP12 - Balaena mysticetus

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_VNHMXM Balaena mysticetus LOF (frameshift, premature stop, ss) Full No Genomic & Transcriptomic

Statements

Type Excerpt DOI
Functional "Interestingly, while this protease is conserved and functional in almost all of the terrestrial mammals, most human populations display different deleterious variants (Fischer et al., 2002), presumably with the same functional consequences as the premature stop codons in whales." 10.1016/j.celrep.2014.12.008
Mutation Description "Thus, the cysteine protease CASP12, a modulator of the activity of inflammatory caspases, has at least one conserved premature stop codon in bowhead and minke whales (see alignments in Supplemental Data File 1)." 10.1016/j.celrep.2014.12.008

Curator Observations

See supplementary material for details