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ACAN aggrecan [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_013227 Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. Full Length Quote
ORF Sequence $3416.85
NM_001135 Homo sapiens aggrecan (ACAN), transcript variant 1, mRNA. Full Length Quote
ORF Sequence $3283.20


Gene Symbol ACAN
Entrez Gene ID 176
Full Name aggrecan
Synonyms AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

15

15q26.1
Summary This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq].
Disorder

MIM: 155760

Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3);
mRNA NM_013227, 256017256
Protein NP_037359, 256017257
Product aggrecan core protein isoform 2 precursor
RefSeq Status REVIEWED
mRNA NM_001135, 256017258
Protein NP_001126, 256017259
Product aggrecan core protein isoform 1 precursor
RefSeq Status REVIEWED
WikiPathways
WP474Endochondral Ossification
Homo sapiens (human)ACANNP_001126.3
Process
IDNameEvidence
GO:0001501skeletal system developmentNAS
GO:0006508proteolysisNAS
GO:0007155cell adhesionIEA
Component
IDNameEvidence
GO:0005576extracellular regionIEA
GO:0005578proteinaceous extracellular matrixIEA
GO:0031012extracellular matrixIDA
Function
IDNameEvidence
GO:0005201extracellular matrix structural constituentTAS
GO:0005515protein bindingIPI
GO:0005529sugar bindingIEA
GO:0005540hyaluronic acid bindingIEA
GeneCards ACAN
MIM 155760
Ensembl ENSG00000157766
HGNC 319
HPRD 01123

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