| Entrez Gene ID |
10087 |
| Official Gene Symbol |
COL4A3BP (GeneCards) |
| Full name |
collagen type IV alpha 3 binding protein |
| Location |
5q13.3 |
| Other ids |
Vega : OTTHUMG00000102068
MIM : 604677
HGNC : HGNC:2205
Ensembl : ENSG00000113163
|
| Other names |
CERT,
GPBP,
CERTL,
MRD34,
STARD11
|
| Summary |
This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |