Native Human COL2A1 Protein


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Native Human COL2A1 Protein

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Cat.No. : COL2A1-1648H
Product Overview : Human COL2A1 native protein from human nasal septum.
Description : This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
Source : Human nasal septum
Species : Human
Form : Lyophilized
Applications : SDS-PAGE
Storage : Store at -20 centigrade. Aliquot to avoid repeated freezing and thawing.
Storage Buffer : No additive
Gene Name : COL2A1 collagen, type II, alpha 1 [ Homo sapiens ]
Official Symbol : COL2A1
Synonyms : COL2A1; collagen, type II, alpha 1; collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) , SEDC; collagen alpha-1(II) chain; chondrocalcin; cartilage collagen; alpha-1 type II collagen; collagen II, alpha-1 polypeptide; AOM; ANFH; SEDC; COL11A3; MGC131516;
Gene ID : 1280
mRNA Refseq : NM_001844
Protein Refseq : NP_001835
MIM : 120140
UniProt ID : P02458

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