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ACAN aggrecan [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_001135 Homo sapiens aggrecan (ACAN), transcript variant 1, mRNA. ORF Sequence $3283.20
Peptide Services
Antibody Services
Protein Services
NM_013227 Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. ORF Sequence $3416.85
Peptide Services
Antibody Services
Protein Services


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, Jul 2008].
Disorder

MIM: 155760

Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3);

mRNA Protein Product Sequence Price Select
NM_001135, 256017258 NP_001126, 256017259 aggrecan core protein isoform 1 precursor Full Length $0.00
ORF Sequence $3283.20
NM_013227, 256017256 NP_037359, 256017257 aggrecan core protein isoform 2 precursor Full Length $0.00
ORF Sequence $3416.85
WikiPathways
WP474Endochondral Ossification
Reactome
REACT_121120Keratan sulfate biosynthesis
REACT_111217Metabolism
REACT_121315Glycosaminoglycan metabolism
REACT_147759MPS VII - Sly syndrome
REACT_147734MPS II - Hunter syndrome
REACT_147753MPS IIIA - Sanfilippo syndrome A
REACT_116125Disease
REACT_147719MPS VI - Maroteaux-Lamy syndrome
REACT_147788MPS IIIB - Sanfilippo syndrome B
REACT_147739MPS IX - Natowicz syndrome
REACT_121313Keratan sulfate degradation
REACT_147857MPS I - Hurler syndrome
REACT_147749MPS IIID - Sanfilippo syndrome D
REACT_147798MPS IV - Morquio syndrome B
REACT_147853Mucopolysaccharidoses
REACT_147860MPS IIIC - Sanfilippo syndrome C
REACT_147825MPS IV - Morquio syndrome A
REACT_121288Keratan sulfate/keratin metabolism
REACT_474Metabolism of carbohydrates
Homo sapiens (human)ACANNP_001126.3
Macaca mulatta (Rhesus monkey)ACANXP_002804990.1
Canis lupus familiaris (dog)ACANNP_001106926.1
Bos taurus (cattle)ACANNP_776406.1
Mus musculus (house mouse)AcanNP_031450.2
Rattus norvegicus (Norway rat)AcanNP_071526.1
Gallus gallus (chicken)ACANXP_001232950.2
Danio rerio (zebrafish)acanaXP_686182.5
Danio rerio (zebrafish)LOC559593XP_688042.3
GeneCards ACAN
UniProt E7EX88, E7ENV9
MIM 155760
Ensembl ENSG00000157766
HGNC 319
HPRD 01123

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Interactant

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