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Summary Expression Expr. PhenotypesPheno. Gene Literature (4)Lit. (4) GO Terms (19)GO (19) Nucleotides (224)Nucl. (224) Proteins (78)Prot. (78) Interactants (185)Interact. (185) Wiki
XB-GENEPAGE-1012294
???displayGene.symbol???:
 col12a1

???displayGene.name???: 
collagen, type XII, alpha 1

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( Nomenclature history )

???displayGene.geneFunction???
Collagens (type IV and type XIII), and related proteins

AI Protein Function :
col12a1 encodes a secreted extracellular matrix protein of the collagen family, classified as a fibril‑associated collagen with interrupted triple helices (FACIT) that binds to collagen I fibrils and m...[+]


InterPro :
Ig-like fold, Collagen, ConA-like dom sf, ECM Assembly Org, [+]

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Diseases: 


Disease Ontology:
Ullrich congenital muscular dystrophy [+]

MIM:
BETHLEM MYOPATHY 2; BTHLM2 [+]

External Links:
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???displayGene.expression???                  Development Stages                                               Embryonic Tissues                                                                Adult Tissues
More Information
Xenbase Expression Details In situ images Single cell data at SPRING In situ: RNA-Seq:


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