Plant Collagen Type XI Alpha 1 (COL11A1) ELISA Kit | COL11A1 elisa kit

Plant Collagen Type XI Alpha 1 (COL11A1) ELISA Kit

• Reactivity: Plant
• Synonyms: Collagen Type XI Alpha 1 (COL11A1); Plant Collagen Type XI Alpha 1 (COL11A1) ELISA Kit; COL11A1 elisa kit

• Reactivity: Plant
• Sequence Length: 1767

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 6165881
• Molecular Weight: 167,752 Da
• NCBI Official Full Name: collagen type XI alpha-1
• UniProt Protein Name: Collagen alpha-1(XI) chain
• Protein Family: Collagen
• UniProt Gene Name: COL11A1
• UniProt Synonym Gene Names: COLL6
• UniProt Entry Name: COBA1_HUMAN

Uniprot Description

COL11A1: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. Defects in COL11A1 are the cause of Stickler syndrome type 2 (STL2); also known as Stickler syndrome vitreous type 2. STL2 is an autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. Defects in COL11A1 are the cause of Marshall syndrome (MRSHS). It is an autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures. Defects in COL11A1 are the cause of fibrochondrogenesis type 1 (FBCG1). A severe short-limbed skeletal dysplasia characterized by broad long-bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Belongs to the fibrillar collagen family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Extracellular matrix; Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 1p21

Cellular Component: collagen type XI; endoplasmic reticulum lumen; extracellular region

Biological Process: collagen catabolic process; detection of mechanical stimulus involved in sensory perception of sound; sensory perception of sound; visual perception

Disease: Fibrochondrogenesis 1; Intervertebral Disc Disease; Marshall Syndrome; Stickler Syndrome, Type Ii