Entity Details

Primary name ACAN
Entity type gene
Source Source Link

Details

PrimaryID176
RefseqGeneNG_012794
SymbolACAN
Nameaggrecan
Chromosome15
Location15q26.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-07-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPGCA_HUMAN

GO terms

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GOName
GO:0001501 skeletal system development
GO:0005201 extracellular matrix structural constituent
GO:0005540 hyaluronic acid binding
GO:0005576 extracellular region
GO:0005796 Golgi lumen
GO:0006508 proteolysis
GO:0007155 cell adhesion
GO:0007417 central nervous system development
GO:0018146 keratan sulfate biosynthetic process
GO:0030198 extracellular matrix organization
GO:0030246 carbohydrate binding
GO:0031012 extracellular matrix
GO:0042340 keratan sulfate catabolic process
GO:0043202 lysosomal lumen
GO:0046872 metal ion binding
GO:0062023 collagen-containing extracellular matrix

Diseases

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Disease IDSourceNameDescription
608361 OMIMSpondyloepiphyseal dysplasia type Kimberley (SEDK)Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy. The disease is caused by variants affecting the gene represented in this entry.
612813 OMIMSpondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG)A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts. The disease is caused by variants affecting the gene represented in this entry.
165800 OMIMShort stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD)An autosomal dominant disease characterized by short stature, advanced bone maturation, early-onset osteoarthritis, and mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disk disease and osteochondritis dissecans. Osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue. The disease is caused by variants affecting the gene represented in this entry.