Entity Details

Primary name COL25A1
Entity type gene
Source Source Link

Details

PrimaryID84570
RefseqGeneNG_047204
SymbolCOL25A1
Namecollagen type XXV alpha 1 chain
Chromosome4
Location4q25
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-25
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCOPA1_HUMAN

GO terms

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GOName
GO:0001540 amyloid-beta binding
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008201 heparin binding
GO:0016021 integral component of membrane
GO:0030199 collagen fibril organization
GO:0042802 identical protein binding
GO:0062023 collagen-containing extracellular matrix

Diseases

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Disease IDSourceNameDescription
616219 OMIMFibrosis of extraocular muscles, congenital, 5 (CFEOM5)An ocular motility disorder characterized by congenital dysinnervation of various cranial nerves to ocular muscles. Clinical features are ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions