TMEM67 Antibody

1. 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. PMID: 28719906
2. Low expression of TMEM67 is associated with lymph node metastasis in urothelial carcinoma of the bladder. PMID: 28161324
3. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
4. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. PMID: 23393159
5. 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 PMID: 20232449
6. Data show that knockdown of MKS3 inhibited degradation of mutant SP-C. PMID: 19815549
7. mapping to chromosome 8 and possible role in Meckel-Gruber syndrome PMID: 12384791
8. Positional cloning of the Wpk gene suggested a MKS3 candidate gene, TMEM67, for which we identified pathogenic mutations for five MKS3-linked consanguineous families. PMID: 16415887
9. identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6) PMID: 17160906
10. Mutations in MKS3 is associated with Bardet-Biedl syndrome PMID: 18327255
11. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). PMID: 19058225
12. Missense mutations within the MKS3 gene are associated with nephronophthisis with liver fibrosis. PMID: 19508969

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HGNC: 28396

OMIM: 209900

KEGG: hsa:91147

STRING: 9606.ENSP00000389998

UniGene: Hs.116240