2025年3月30日 · TMEM67 (Transmembrane Protein 67) is a Protein Coding gene. Diseases associated with TMEM67 include Rhyns Syndrome and Coach Syndrome 1. Among its related pathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and filamin binding.

2006年1月15日 · MKS3 is a previously uncharacterized, evolutionarily conserved gene that is expressed at moderate levels in fetal brain, liver and kidney but has widespread, low levels of expression.

Microarray screens for genes involved in SP-C ER-associated degradation identified MKS3/TMEM67, a locus previously linked to the ciliopathy Meckel-Gruber syndrome. In this study, MKS3 was identified as a membrane glycoprotein predominantly localized to the ER. Expression of MKS3 was up-regulated by genetic or pharmacological inducers of ER ...

MKS is a rare, autosomal recessive lethal condition characterized by central nervous system malformations (typically, occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver.

2013年7月19日 · Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by …

Meckel Syndrome, Type 3, also known as meckel syndrome 3, is related to meckel syndrome, type 2 and meckel syndrome, type 4. An important gene associated with Meckel Syndrome, Type 3 is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance.

By analyzing mks-3 mutants, we found that ciliogenesis did not require MKS-3; instead, cilia elongated and cilia-mediated chemoreception was abnormal. Genetic analysis indicated that mks-3 functions in a pathway with other mks genes.

Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic kidney disease. Other malformations associated with MKS3 include cystic changes in the liver, polydactyly, and brain abnormalities (occipital encephalocele, hydrocephalus, …

在这里，我们报告了人类 Meckelin（也称为 TMEM67 和 MKS3）的 3.3-Å 冷冻电子显微镜结构。 该结构揭示了一个独特的蛋白质折叠，由一个不寻常的富含半胱氨酸的结构域组成，该结构域折叠成由 11 对二硫键稳定的拱桥，一个以前未表征的结构域，称为富含 β 折叠的结构域，一个以前未识别的七跨膜折叠，其中 TM4 到TM6 在膜的细胞质表面附近被破坏，并且卷曲螺旋结构域位于跨膜结构域下方。 Meckelin 形成一个稳定的同型二聚体，具有广泛的二聚体界面。 我们的结构 …

Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1.