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The protein encoded by TMEM67 localizes to the primary cilium and to the plasma membrane. De plus, nous expédions TMEM67 Anticorps (21) et et beaucoup plus de produits pour cette protéine.
The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively).
mutation analysis of TMEM67 in Joubert syndrome and related disorders cases and Meckel syndrome fetuses; identification of 20 novel mutations; review of published mutations and discussion of genotype-phenotype correlates
Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A (Montrer CC2D2A Kits ELISA) and RPGRIP1L (Montrer RPGRIP1L Kits ELISA).
Data show that knockdown of MKS3 inhibited degradation of mutant SP-C (Montrer SFTPC Kits ELISA).
Positional cloning of the Wpk gene suggested a MKS3 candidate gene, TMEM67, for which we identified pathogenic mutations for five MKS3-linked consanguineous families.
identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6)
The Meckel-Gruber Syndrome proteins MKS1 (Montrer MKS1 Kits ELISA) and meckelin interact and are required for primary cilium formation.
Study concluded that MKS1 (Montrer MKS1 Kits ELISA) and MKS3 account for the majority of Meckel-Gruber syndrome; polydactyly is usually found in MKS1 (Montrer MKS1 Kits ELISA) but rare in MKS3; cases with no, or milder, CNS phenotypes were only found in MKS3.
genotyping of MKS1 (Montrer MKS1 Kits ELISA) & MKS3 genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 (Montrer MKS1 Kits ELISA) & MKS3 genes are each responsible for about 7% of MKS (Montrer MKS1 Kits ELISA) cases with various mutations in different populations
Multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) knockout mouse that closely resemble those seen in Wnt5a (Montrer WNT5A Kits ELISA) and Ror2 (Montrer ROR2 Kits ELISA) knockout mice.
Meckelin is expressed in mESCs and localized at the primary cilium. Meckelin depletion impairs neural differentiation of mESCs.
TMEM67 mutations cause PKD (Montrer PRKD1 Kits ELISA) through ERK (Montrer EPHB2 Kits ELISA)- and JNK (Montrer MAPK8 Kits ELISA)-dependent signalling pathways, which may provide novel insight into the therapy of polycystic kidney diseases.
The Tmem67 knockout mouse line is unique in modelling the variable expressivity of phenotypes in Meckel-Gruber syndrome and Joubert syndrome.
Meckelin is a component of ciliary and cell membranes and is encoded by Tmem67 (Mks3).
The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6).
transmembrane protein 67
, meckel syndrome type 3 protein
, meckel syndrome type 3 protein homolog
, Meckel syndrome type 3 protein homolog
, Wistar polycystic kidney