Preferred Label : COL4A3 wt Allele;
NCIt synonyms : Goodpasture Antigen Gene; Collagen, Type IV, Alpha 3 (Goodpasture Antigen) Gene; TUMSTATIN Gene; Collagen IV, Alpha-3 Polypeptide Gene; Alpha 3 Type IV Collagen Precursor Gene; Collagen of Basement Membrane, Alpha-3 Chain Gene; COL4A3; Collagen, Type IV, Alpha-3 Gene; Collagen Type IV Alpha 3 Chain wt Allele;
NCIt definition : Human COL4A3 wild-type allele is located within 2q36.3 and is approximately 150 kb
in length. This allele, which encodes collagen alpha-3 (IV) chain protein, is involved
in the maintenance of the structure of the basement membrane. Mutation of the gene
is linked to an autosomal recessive form of Alport syndrome.;
NCIt note : In Goodpasture syndrome, autoantibodies that bind to the collagen molecules in the
basement membranes of alveoli and glomeruli are produced and can cause glomerulonephritis
and lung hemorrhage. (SwissProt, OMIM);
GenBank Accession Number : NM_000091;
Origin ID : C52481;
UMLS CUI : C1704812;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- gene_associated_with_disease
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
