about
P688
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assemblyCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisRequirement of Bardet-Biedl syndrome proteins for leptin receptor signalingLoss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epitheliaDisruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebratesLeptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndromeBardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerizationA knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesityInhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndromeCartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis
P921
Q24295491-9A238B40-7C14-4F7B-888E-EF0B4318462AQ24309344-6681B320-7372-4824-B73F-08FA98EAAB5DQ24317488-743F4E0E-978B-42E9-946D-F60EDE4C1C3CQ24317556-BE9CC687-66DA-43A3-B9D8-2C4E7E6F0755Q28506652-0E0D87EC-71FE-43A7-80E2-0A517919C368Q28511291-E04B0306-67B6-40F3-805E-EF6A7E5951F0Q28511839-17D6E708-7774-4B84-BDDF-F89BB864737FQ28513461-130C3B09-2569-4F27-9BED-DB8EC5EF1F50Q28585667-CEFF1D63-1587-4258-B1F1-A181DC1EBCDEQ28594558-D852E5AD-42C7-4BE6-93D7-E1C8A9975619Q28595018-4AF55589-0B7E-423A-AA14-CCB888E083A4
P921
description
mammalian protein found in Mus musculus
@en
protein
@id
proteinë
@sq
proteïne in McKusick-Kaufman syndrome
@nl
protèin
@ace
بروتين في فأر المنازل
@ar
name
McKusick-Kaufman syndrome
@en
type
label
McKusick-Kaufman syndrome
@en
altLabel
McKusick-Kaufman syndrome protein
@en
McKusick-Kaufman syndrome protein; MKKS protein
@en
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
@en
Mkks
@en
protein Bbs6 homolog
@en
prefLabel
McKusick-Kaufman syndrome
@en
P361
P637
P680
P681
P682
P352
P279
P31
P352
P361
P637
NP_001135418
NP_001273910
NP_001273912
P680
P681
P682
P702
P703
P705
ENSMUSP00000028730
ENSMUSP00000105716