meckelin isoform 2 [Homo sapiens]

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Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis. [J Cell Physiol. 2022]
Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.
Qiu YL, Wang L, Huang M, Lian M, Wang F, Gong Y, Ma X, Hao CZ, Zhang J, Li ZD, et al. J Cell Physiol. 2022 Jun; 237(6):2713-2723. Epub 2022 May 27.
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report. [BMC Med Genet. 2020]
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH, Nguyen NT, Ngo VD, Nguyen HN, Ly TTH, Do HD, Huynh MT. BMC Med Genet. 2020 Jan 30; 21(1):18. Epub 2020 Jan 30.
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. [Eur J Hum Genet. 2018]
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, et al. Eur J Hum Genet. 2018 Sep; 26(9):1266-1271. Epub 2018 Jun 11.

RefSeq genomic sequence
See the genomic reference sequence for the TMEM67 gene (NG_009190.1).
RefSeq mRNA
See reference mRNA sequence for the TMEM67 gene (NM_001142301.1).
RefSeq protein isoforms
See 10 reference sequence protein isoforms for the TMEM67 gene.

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SNP
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NP_001135773 [Domain Mapping of Disease Mut...]
NP_001135773
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

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