Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol COL4A3BP contributors: mct/npt/pgu - updated : 08-03-2017
HGNC name collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
HGNC id 2205
ASSOCIATED DISORDERS
corresponding disease(s) MRD34
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
can attenuate a key metabolic protective mechanism against ceramide-induced apoptosis in keratinocytes
constitutional       loss of function
compromises organelle function and leads to senescence in primary cells
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Cert deficient embryos die from cardiac failure due to defective organogenesis, but not due to ceramide induced apoptotic or necrotic cell death