Rabbit anti-Human MKKS Polyclonal Antibody

Uniprot Id

Q9NPJ1

Target Species

Human

Target Name

MKKS

Target Full Name

Molecular chaperone MKKS

Target Function

Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis. Plays 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.

Target Involvement

McKusick-Kaufman syndrome (MKKS); Bardet-Biedl syndrome 6 (BBS6)

Target Subcellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol. Nucleus. Note=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.

Target Protein Families

TCP-1 chaperonin family

Target Tissue Specificity

Widely expressed in adult and fetal tissues.

Target Synonyms

Bardet Biedl syndrome 6 protein; Bardet-Biedl syndrome 6 protein; BBS6; HMCS; KMS; McKusick Kaufman syndrome; McKusick Kaufman/Bardet Biedl syndromes putative chaperonin; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Mkks; MKKS_HUMAN; MKS

Target 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. 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.