ELK Biotechnology Collagen II α1 (Cleaved-Ala1241) rabbit pAb

Collagen II α1 (Cleaved-Ala1241) rabbit pAb

제품 정보

Background

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

• Avascular necrosis of femoral head (ANFH) – causes disability requiring surgical intervention; typically occurs between ages 30–60.
• Rhegmatogenous retinal detachment (DRRD) – leads to visual impairment or blindness if untreated.
• Chondrodysplasias – including hypochondrogenesis, osteoarthritis, and achondrogenesis type 2 (ACG2).
• Kniest syndrome (KS) – characterized by short trunk, mid-face hypoplasia, cleft palate, myopia, and hearing loss.
• Legg-Calve-Perthes disease (LCPD) – avascular necrosis in growing children.
• Multiple epiphyseal dysplasia (EDMMD) – with myopia and conductive deafness.
• Osteoarthritis with mild chondrodysplasia – related to COL2A1 gene variants.
• Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) – severe skeletal dysplasia, often perinatally lethal.
• Spondyloepiphyseal dysplasia congenita (SEDC) – short stature with skeletal and ocular involvement.
• Spondyloperipheral dysplasia (SPD) – short stature, facial hypoplasia, and hearing loss.
• Stickler syndrome type 1 (STL1) – ocular and skeletal abnormalities with hearing loss.
• Stickler syndrome type 1 non-syndromic ocular (STL1O) – ocular symptoms without systemic features.
• Strudwick type spondyloepimetaphyseal dysplasia (SEMD) – short stature, scoliosis, and metaphyseal changes.
• Wagner syndrome type II (WS-II) – early-onset cataracts and retinal degeneration.

Functional Information

• Function: Type II collagen is specific for cartilaginous tissues and is essential for skeletal development, linear growth, and cartilage resistance to compression.
• Post-translational Modifications (PTM):
  • Hydroxylation of prolines in G-X-Y tripeptide repeats.
  • Covalent linkage of N-telopeptide and C-telopeptide regions with other collagen chains (COL2 and COL9).
• Similarity: Member of the fibrillar collagen family; contains 1 VWFC domain.
• Subunit: Forms homotrimers of alpha 1(II) chains.
• Tissue Specificity: High expression in juvenile chondrocytes; low in fetal chondrocytes.