ELK Biotechnology Collagen II α1 (Cleaved-Gln182) rabbit pAb

Collagen II α1 (Cleaved-Gln182) rabbit pAb

기본 정보

Background

Defects in COL2A1 are associated with multiple diseases and syndromes, including:

• Primary avascular necrosis of femoral head (ANFH) [MIM:608805]
• Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]
• Various chondrodysplasia including hypochondrogenesis and osteoarthritis
• Achondrogenesis hypochondrogenesis type 2 (ACG2) [MIM:200610]
• Kniest syndrome (KS) [MIM:156550]
• Legg-Calve-Perthes disease (LCPD) [MIM:150600]
• Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]
• Osteoarthritis with mild chondrodysplasia [MIM:604864]
• Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
• Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
• Spondyloperipheral dysplasia (SPD) [MIM:271700]
• Stickler syndrome type 1 (STL1) [MIM:108300]
• Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:609508]
• Strudwick type spondyloepimetaphyseal dysplasia (SEMD) [MIM:184250]
• Wagner syndrome type II (WS-II)

Of special interest are variants replacing arginine codons at positions 275, 719, and 989 with cysteine, uniquely affecting the triple-helical domain of type II collagen.

Function

Type II collagen is specific for cartilaginous tissues and is essential for:

• Normal embryonic skeletal development
• Linear growth
• Cartilage resistance to compressive forces

Post-translational Modifications (PTM)

• Hydroxylation of prolines at the third position of the tripeptide repeating unit (G-X-Y)
• N-telopeptide and C-telopeptide covalent linkage with alpha chains of type IX collagen

Structural Information

• Belongs to the fibrillar collagen family
• Contains 1 VWFC domain
• Forms homotrimers of alpha 1(II) chains

Tissue Specificity

High expression of isoform 2 in juvenile chondrocytes and low expression in fetal chondrocytes.

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