MKKS Antibody (PACO16694)
제품 코드를 사용하여 Assay Genie 메인 사이트를 통해 주문합니다.
주문- SKU:
- PACO16694
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Description
Antibody Name: | MKKS Antibody (PACO16694) |
Antibody SKU: | PACO16694 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, IHC |
Recommended Dilutions: | ELISA:1:2000-1:5000, IHC:1:50-1:200 |
Species Reactivity: | Human |
Immunogen: | Fusion protein of human MKKS |
Form: | Liquid |
Storage Buffer: | -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
Purification Method: | Antigen affinity purification |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
![]() | The image on the left is immunohistochemistry of paraffin-embedded Human brain tissue using PACO16694(MKKS Antibody) at dilution 1/50, on the right is treated with fusion protein. (Original magnification: x200). |
![]() | The image on the left is immunohistochemistry of paraffin-embedded Human colon cancer tissue using PACO16694(MKKS Antibody) at dilution 1/50, on the right is treated with fusion protein. (Original magnification: x200). |
Background: | 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. |
Synonyms: | McKusick-Kaufman syndrome |
UniProt Protein Function: | MKKS: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis. Defects in MKKS are the cause of McKusick-Kaufman syndrome (MKKS). MKKS is an autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects. Defects in MKKS are the cause of Bardet-Biedl syndrome type 6 (BBS6). 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. Belongs to the TCP-1 chaperonin family. |
UniProt Protein Details: | Protein type:Chaperone; Cell development/differentiation Chromosomal Location of Human Ortholog: 20p12 Cellular Component: centrosome; intracellular; cytosol Molecular Function:protein binding; unfolded protein binding; ATP binding Biological Process: fat cell differentiation; gonad development; protein folding; heart development; photoreceptor cell maintenance; pigment granule aggregation in cell center; positive regulation of multicellular organism growth; vasodilation; intracellular transport; visual perception; sensory cilium biogenesis; brain morphogenesis; cilium biogenesis; negative regulation of blood pressure; heart looping; chaperone-mediated protein complex assembly; artery smooth muscle contraction; striatum development; convergent extension involved in gastrulation; sensory perception of smell; hippocampus development; social behavior; detection of mechanical stimulus involved in sensory perception of sound; melanosome transport; cartilage development; cerebral cortex development; determination of left/right symmetry; spermatid development Disease: Bardet-biedl Syndrome 6; Bardet-biedl Syndrome 1; Mckusick-kaufman Syndrome |
NCBI Summary: | 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] |
UniProt Code: | Q9NPJ1 |
NCBI GenInfo Identifier: | 11133565 |
NCBI Gene ID: | 8195 |
NCBI Accession: | Q9NPJ1.1 |
UniProt Secondary Accession: | Q9NPJ1,A8K7B0, D3DW18, |
UniProt Related Accession: | Q9NPJ1 |
Molecular Weight: | 570 |
NCBI Full Name: | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin |
NCBI Synonym Full Names: | McKusick-Kaufman syndrome |
NCBI Official Symbol: | MKKS |
NCBI Official Synonym Symbols: | KMS; MKS; BBS6; HMCS |
NCBI Protein Information: | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Bardet-Biedl syndrome 6 protein |
UniProt Protein Name: | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin |
UniProt Synonym Protein Names: | Bardet-Biedl syndrome 6 protein |
Protein Family: | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin |
UniProt Gene Name: | MKKS |
UniProt Entry Name: | MKKS_HUMAN |
Antibodies |
Anti-MKKS Antibody (CAB15336) |
Secondary Antibody |
Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014) |
Recommended Products |
Anti-FITC Goat Anti-Rabbit IgG (H+L) Antibody (CABS011) |
Anti-HRP-conjugated Beta Actin Antibody (CABC028) |