TMEM67

Last updated
TMEM67
Identifiers
Aliases TMEM67 , JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, transmembrane protein 67
External IDs OMIM: 609884 MGI: 1923928 HomoloGene: 71886 GeneCards: TMEM67
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001142301
NM_153704

NM_177861

RefSeq (protein)

NP_001135773
NP_714915

NP_808529

Location (UCSC) Chr 8: 93.75 – 93.82 Mb Chr 4: 12.04 – 12.09 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Meckelin is a protein that in humans is encoded by the TMEM67 gene. [5] [6] [7]

Contents

Function

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. [7]

Clinical significance

Defects in this gene are a cause of Meckel syndrome type 3 (MKS3), [6] nephronophthisis [8] [9] and Joubert syndrome type 6 (JBTS6). [10]

See also

Related Research Articles

<span class="mw-page-title-main">Basal body</span> Protein structure found at the base of cilium or flagellum).

A basal body is a protein structure found at the base of a eukaryotic undulipodium. The basal body was named by Theodor Wilhelm Engelmann in 1880 It is formed from a centriole and several additional protein structures, and is, essentially, a modified centriole. The basal body serves as a nucleation site for the growth of the axoneme microtubules. Centrioles, from which basal bodies are derived, act as anchoring sites for proteins that in turn anchor microtubules, and are known as the microtubule organizing center (MTOC). These microtubules provide structure and facilitate movement of vesicles and organelles within many eukaryotic cells.

<span class="mw-page-title-main">Meckel–Gruber syndrome</span> Medical condition

Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. Meckel–Gruber syndrome is named for Johann Meckel and Georg Gruber.

<span class="mw-page-title-main">Senior–Løken syndrome</span> Congenital eye disorder

Senior–Løken syndrome is a congenital eye disorder, first characterized in 1961. It is a rare, ciliopathic, autosomal recessive disorder characterized by juvenile nephronophthis and progressive eye disease.

<span class="mw-page-title-main">AHI1</span> Protein-coding gene in the species Homo sapiens

The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.

<span class="mw-page-title-main">CEP290</span>

Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.

<span class="mw-page-title-main">OFD1</span> Mammalian protein found in Homo sapiens

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.

<span class="mw-page-title-main">INVS</span> Protein-coding gene in the species Homo sapiens

Inversin is a protein that in humans is encoded by the INVS gene.

<span class="mw-page-title-main">NPHP4</span> Protein-coding gene in the species Homo sapiens

Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.

<span class="mw-page-title-main">MALL</span>

MAL-like protein is a protein that in humans is encoded by the MALL gene.

<span class="mw-page-title-main">IQCB1</span>

IQ calmodulin-binding motif-containing protein 1 is a protein that in humans is encoded by the IQCB1 gene.

<span class="mw-page-title-main">NPHP3</span>

Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.

<span class="mw-page-title-main">Ciliopathy</span> Genetic disease resulting in abnormal formation or function of cilia

A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. The similarity of the clinical features of these developmental disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy.

RPGRIP1L is a human gene.

<span class="mw-page-title-main">MKS1</span> Protein-coding gene in the species Homo sapiens

Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.

<span class="mw-page-title-main">CC2D2A</span> Protein-coding gene in the species Homo sapiens

Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.

<span class="mw-page-title-main">TMEM216</span>

Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.

<span class="mw-page-title-main">ARL13B</span> Protein-coding gene in the species Homo sapiens

ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.

<span class="mw-page-title-main">NEK8</span> Protein-coding gene in the species Homo sapiens

Serine/threonine-protein kinase Nek8, also known as never in mitosis A-related kinase 8, is an enzyme that in humans is encoded by the NEK8 gene.

Ciliogenesis is defined as the building of the cell's antenna or extracellular fluid mediation mechanism. It includes the assembly and disassembly of the cilia during the cell cycle. Cilia are important organelles of cells and are involved in numerous activities such as cell signaling, processing developmental signals, and directing the flow of fluids such as mucus over and around cells. Due to the importance of these cell processes, defects in ciliogenesis can lead to numerous human diseases related to non-functioning cilia. Ciliogenesis may also play a role in the development of left/right handedness in humans.

<span class="mw-page-title-main">Tetratricopeptide repeat domain 21b</span> Protein-coding human gene

Tetratricopeptide repeat domain 21B is a protein that in humans is encoded by the TTC21B gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000164953 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000049488 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller RF, Trembath RC, Maher ER, Johnson CA (Oct 2002). "A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24". Hum Genet. 111 (4–5): 456–61. doi:10.1007/s00439-002-0817-0. PMID   12384791. S2CID   31669120.
  6. 1 2 Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik SS, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, Gattone VH II, Harris PC, Johnson CA (Jan 2006). "The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat". Nat Genet. 38 (2): 191–6. doi:10.1038/ng1713. PMID   16415887. S2CID   975892.
  7. 1 2 "Entrez Gene: TMEM67 transmembrane protein 67".
  8. Boichis H, Passwell J, David R, Miller H (January 1973). "Congenital hepatic fibrosis and nephronophthisis. A family study". Q. J. Med. 42 (165): 221–33. PMID   4688793.
  9. Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F (October 2009). "Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)". J. Med. Genet. 46 (10): 663–70. doi: 10.1136/jmg.2009.066613 . PMID   19508969.
  10. Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T (January 2007). "The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome". Am. J. Hum. Genet. 80 (1): 186–94. doi:10.1086/510499. PMC   1785313 . PMID   17160906.

Further reading