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The protein encoded by TMEM67 localizes to the primary cilium and to the plasma membrane. Zusätzlich bieten wir Ihnen und viele weitere Produktgruppen zu diesem Protein an.
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The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
Kidney disease occurs in up to one third of patients with Joubert syndrome, most commonly in those with mutations in CEP290 (zeige CEP290 Antikörper), TMEM67, and AHI1 (zeige AHI1 Antikörper).
The authors results suggest that Asn242Ser in TMEM67 is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran.
Low expression of TMEM67 is associated with lymph node metastasis in urothelial carcinoma of the bladder.
Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L (zeige RPGRIP1L Antikörper) and TMEM138 (zeige TMEM138 Antikörper)/BBS1 (zeige BBS1 Antikörper), 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 (zeige CC2D2A Antikörper) and RPGRIP1L (zeige RPGRIP1L Antikörper).
Data show that knockdown of MKS3 inhibited degradation of mutant SP-C (zeige SFTPC Antikörper).
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)
Multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) knockout mouse that closely resemble those seen in Wnt5a (zeige WNT5A Antikörper) and Ror2 (zeige ROR2 Antikörper) knockout mice.
Meckelin is expressed in mESCs and localized at the primary cilium. Meckelin depletion impairs neural differentiation of mESCs.
TMEM67 mutations cause PKD (zeige PRKD1 Antikörper) through ERK (zeige EPHB2 Antikörper)- and JNK (zeige MAPK8 Antikörper)-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