| Gene Symbol |
MKKS
|
| Entrez Gene |
8195
|
| Alt Symbol |
BBS6, HMCS, KMS, MKS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
McKusick-Kaufman syndrome
|
| Other Description |
Bardet-Biedl syndrome 6 protein|McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
|
| Swissprots |
Q9NPJ1 D3DW18 A8K7B0
|
| Accessions |
EAX10343 EAX10344 EAX10345 Q9NPJ1 AF075024 AF221992 AAF73872 AF221993 AAF73873 AF275813 AAG23823 AK025741 BAB15230 AK291925 BAF84614 AK296439 BAH12355 AL157427 CAB75652 AM393018 CAL37896 BC009180 BC013287 BC028973 AAH28973 BM019257 DA209180 NM_018848 NP_061336 NM_170784 NP_740754 NR_072977
|
| Function |
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. {ECO:0000269|PubMed:20080638}.
|
| Subcellular Location |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol. 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.
|
| Tissue Specificity |
Widely expressed in adult and fetal tissues.
|