background:
HAS1, HAS2 and HAS3 are HA Synthase proteins that synthesize HA (Hyaluronan or hyaluronic acid). The extracellular matrix in most vertebrates express HA, which is a high molecular weight linear polysaccharide composed of alternating glucuronic acid and N-acetylglucosamine residues linked by β-1,3 and β-1,4 glycosidic bonds. The three HAS genes show distinct patterns of expression during development and their protein products play significantly different roles in the formation of the HA matrix. Both HAS1 and HAS2 synthesise high molecular-weight HA, whereas HAS3 produces lower molecular weight HA. The expression of the three HAS isoforms is more prominent in growing cells than in resting cells and is differentially regulated by various stimuli suggesting distinct functional roles of the three proteins. HAS2 mRNA shows predominant expression in chondrocytes and cartilage. The human HAS2 gene maps to chromosome 8q24.12.
Function:
Plays a role in hyaluronan/hyaluronic acid (HA) synthesis.
Subcellular Location:
Membrane.
Tissue Specificity:
Expressed in fibroblasts.
DISEASE:
Note=A chromosomal aberration involving HAS2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. 8q12.1 to 8q24.1 intrachromosomal rearrangement with PLAG1.
Similarity:
Belongs to the nodC/HAS family.
Database links:
Entrez Gene: 395594 Chicken
Entrez Gene: 100009708 Horse
Entrez Gene: 3037 Human
Entrez Gene: 15117 Mouse
Entrez Gene: 25694 Rat
Omim: 601636 Human
SwissProt: O57424 Chicken
SwissProt: Q92819 Human
SwissProt: P70312 Mouse
SwissProt: O35776 Rat
Unigene: 329 Chicken
Unigene: 159226 Human
Unigene: 5148 Mouse
Unigene: 87393 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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