TMC6

Last updated
TMC6
Identifiers
Aliases TMC6 , EV1, EVER1, EVIN1, LAK-4P, transmembrane channel like 6, TNRC6C-AS1, lnc
External IDs OMIM: 605828 MGI: 1098686 HomoloGene: 5258 GeneCards: TMC6
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_145439
NM_181321

RefSeq (protein)

NP_663414

Location (UCSC) Chr 17: 78.11 – 78.13 Mb Chr 11: 117.66 – 117.67 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene. [5] [6] In vivo, TMC6 and its homolog TMC8, interact and form a complex with the zinc transporter 1 (SLC30A1) and localize mostly to the endoplasmic reticulum, but also to the nuclear membrane and Golgi apparatus. [7]

Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis, [7] which is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin resulting in the growth of scaly macules and papules, particularly on the hands and feet.

Related Research Articles

<span class="mw-page-title-main">Keratin 4</span>

Keratin, type I cytoskeletal 4 also known as cytokeratin-4 (CK-4) or keratin-4 (K4) is a protein that in humans is encoded by the KRT4 gene.

<span class="mw-page-title-main">Keratin 10</span> Protein-coding gene in the species Homo sapiens

Keratin, type I cytoskeletal 10 also known as cytokeratin-10 (CK-10) or keratin-10 (K10) is a protein that in humans is encoded by the KRT10 gene. Keratin 10 is a type I keratin.

<span class="mw-page-title-main">Keratin 16</span> Protein-coding gene in the species Homo sapiens

Keratin 16 is a protein that in humans is encoded by the KRT16 gene.

<span class="mw-page-title-main">ABCA12</span> Protein-coding gene in the species Homo sapiens

ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.

<span class="mw-page-title-main">Neurotrophin-4</span> Protein-coding gene in the species Homo sapiens

Neurotrophin-4 (NT-4), also known as neurotrophin-5 (NT-5), is a protein that in humans is encoded by the NTF4 gene. It is a neurotrophic factor that signals predominantly through the TrkB receptor tyrosine kinase.

<span class="mw-page-title-main">Epidermodysplasia verruciformis</span> Medical condition

Epidermodysplasia verruciformis (EV), also known as treeman syndrome, is an extremely rare autosomal recessive hereditary skin disorder associated with a high risk of skin cancer. It is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin. The resulting uncontrolled HPV infections result in the growth of scaly macules and papules resembling tree bark, particularly on the hands and feet. It is typically associated with HPV types 5 and 8, which are found in about 80% of the normal population as asymptomatic infections, although other types contribute less frequently, among them types 12, 14, 15 and 17.

<span class="mw-page-title-main">PTCH1</span> Protein-coding gene in the species Homo sapiens

Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.

<span class="mw-page-title-main">Laminin, beta 3</span> Protein-coding gene in the species Homo sapiens

Laminin subunit beta-3 is a protein that in humans is encoded by the LAMB3 gene.

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

Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.

<span class="mw-page-title-main">FERMT1</span> Protein-coding gene in the species Homo sapiens

Fermitin family homolog 1 is a protein that in humans is encoded by the FERMT1 gene.

<span class="mw-page-title-main">Extracellular matrix protein 1</span> Protein-coding gene in the species Homo sapiens

Extracellular matrix protein 1 is a protein that in humans is encoded by the ECM1 gene.

<span class="mw-page-title-main">KRT86</span>

Keratin, type II cuticular Hb6 is a protein that in humans is encoded by the KRT86 gene.

<span class="mw-page-title-main">GJB4</span> Protein-coding gene in the species Homo sapiens

Gap junction beta-4 protein (GJB4), also known as connexin 30.3 (Cx30.3) — is a protein that in humans is encoded by the GJB4 gene.

<span class="mw-page-title-main">TMC2</span> Protein-coding gene in the species Homo sapiens

Transmembrane channel-like protein 2 is a protein that in humans is encoded by the TMC2 gene.

<span class="mw-page-title-main">TMC1</span> Protein-coding gene in the species Homo sapiens

Transmembrane channel-like protein 1 is a protein that in humans is encoded by the TMC1 gene. TMC1 contains six transmembrane domains with both the C and N termini on the endoplasmic side of the membrane, as well as a large loop between domains 4 and 5. This topology is similar to that of transient receptor potential channels (TRPs), a family of proteins involved in the perception of senses such as temperature, taste, pressure, and vision. TMC1 has been located in the post-natal mouse cochlea, and knockouts for TMC1 and TMC2 result in both auditory and vestibular deficits indicating TMC1 is a molecular part of auditory transduction.

<span class="mw-page-title-main">TMC8</span> Protein-coding gene in the species Homo sapiens

Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene.

<span class="mw-page-title-main">TMEM216</span> Protein-coding gene in the species Homo sapiens

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

<span class="mw-page-title-main">GJC2</span> Protein-coding gene in the species Homo sapiens

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.

Gérard Orth was born on February 7, 1936, in Paris is a French virologist, emeritus research director at the CNRS, honorary professor at the Pasteur Institute.

<span class="mw-page-title-main">NIPAL4</span> Gene

Nipa‐Like Domain‐Containing 4, also known as NIPAL4 or Ichthyin, is a gene that is predicted to code for a transmembrane protein with nine transmembrane domains. NIPAL4 codes for the protein magnesium transporter NIPA4, which acts as a Mg2+
transporter.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000141524 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025572 - 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. Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M (Nov 2002). "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis". Nat Genet. 32 (4): 579–81. doi:10.1038/ng1044. PMID   12426567. S2CID   20013445.
  6. "Entrez Gene: TMC6 transmembrane channel-like 6".
  7. 1 2 Lazarczyk, M; C Pons; JA Mendoza; P Cassonnet; Y Jacob; M Favre (2008-01-21). "Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses". The Journal of Experimental Medicine. 205 (1): 35–42. doi:10.1084/jem.20071311. PMC   2234378 . PMID   18158319.

Further reading