基因名称(Gene Name)
SETD5 KIAA1757
蛋白名称
SET domain-containing protein 5
免疫原
Synthesized peptide derived from human SETD5 AA range: 634-684
特异性
This antibody detects endogenous levels of human SETD5
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008],
功能
disease:Defects in MATN3 are the cause of multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis.,disease:Defects in MATN3 are the cause of spondyloepimetaphyseal dysplasia bowed-legs type (SEMD bowed-legs type) [MIM:608728]; also known as matrilin-3 related SEMD. Affected individuals show disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with s
