产品名称
MKKS Rabbit Polyclonal Antibody
别名
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (Bardet-Biedl syndrome 6 protein)
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.184% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/8195
Human Swissprot No.
Q9NPJ1
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9NPJ1/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/59030
Mouse Swissprot No.
Q9JI70
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9JI70
免疫原
Synthesized peptide derived from human MKKS AA range: 166-216
特异性
This antibody detects endogenous levels of MKKS at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013],
组织表达
Widely expressed in adult and fetal tissues.
细胞定位
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol . Nucleus . The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome.
功能
disease:Defects in MKKS are the cause of Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.,disease:Defects in MKKS are the cause of McKusick-Kaufman syndrome (MKKS) [MIM:236700]. MKKS is an autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.,function:May play a role in protein processing in limb, cardiac and reproductive system development.,online information:Retina International's Scientific Newsletter,similarity:Belongs to the TCP-1 chaperonin family.,tissue specificity:Widely expressed in adult and fetal tissues.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
