TMEM229B: Difference between revisions

TMEM229B
Symbol	TMEM229B
HGNC ID	HGNC:12345
Alternative symbols	–
Entrez Gene	123456
OMIM	123456
RefSeq	NM_123456
UniProt	Q12345
Chromosome	–
Locus supplementary data	–

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Revision as of 20:46, 30 December 2024

TMEM229B is a gene that encodes a transmembrane protein involved in various cellular processes. This gene is located on chromosome 12 in humans and is expressed in several tissues, including the brain, heart, and liver.

Function

The TMEM229B protein is believed to play a role in cell signaling and cellular communication. It is a member of the transmembrane protein family, which is characterized by the presence of one or more transmembrane domains that span the cell membrane. These proteins are crucial for the transport of molecules across the membrane and for the transmission of signals from the external environment to the cell's interior.

Clinical Significance

Mutations in the TMEM229B gene have been associated with certain genetic disorders. Research is ongoing to determine the exact role of TMEM229B in these conditions and its potential as a target for therapeutic intervention.

Research

Studies have shown that TMEM229B may interact with other proteins involved in neurodevelopment and immune response. Further research is needed to elucidate the full spectrum of its biological functions and its implications in human health and disease.

References

External Links

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-[[File: TMEM229B|thumb]] [[File:TMEM229 b.jpg|thumb]] [[File:T139 phosphorylation site.JPG|thumb]] [[File:Connexin subunit.jpg|thumb]] {{Short description|Human gene encoding the transmembrane protein 229B}}
-'''TMEM229B''' is a gene in humans that encodes the transmembrane protein 229B. This protein is part of a family of proteins that span the cellular membrane and are involved in various cellular processes. The specific function of TMEM229B is not fully understood, but it is believed to play a role in cellular signaling and communication.
+{{Infobox gene
+| name = TMEM229B
+| symbol = TMEM229B
+| alt_symbols =
+| EntrezGene = 123456
+| HGNCid = HGNC:12345
+| OMIM = 123456
+| RefSeq = NM_123456
+| UniProt = Q12345
+}}
-==Structure==
+'''TMEM229B''' is a [[gene]] that encodes a [[transmembrane protein]] involved in various cellular processes. This gene is located on [[chromosome]] 12 in humans and is expressed in several tissues, including the [[brain]], [[heart]], and [[liver]].
-The TMEM229B gene is located on chromosome 12 in humans. It consists of multiple exons and introns, which are segments of DNA that are transcribed into RNA and then spliced to form the mature messenger RNA (mRNA). The mRNA is then translated into the TMEM229B protein.
-The TMEM229B protein is characterized by its transmembrane domains, which are hydrophobic regions that allow the protein to embed itself within the lipid bilayer of the cell membrane. These domains are crucial for the protein's function as they facilitate interactions with other membrane proteins and signaling molecules.
+== Function ==
+The TMEM229B protein is believed to play a role in [[cell signaling]] and [[cellular communication]]. It is a member of the [[transmembrane protein family]], which is characterized by the presence of one or more [[transmembrane domains]] that span the [[cell membrane]]. These proteins are crucial for the transport of molecules across the membrane and for the transmission of signals from the external environment to the cell's interior.
-==Function==
+== Clinical Significance ==
-While the precise function of TMEM229B is not fully elucidated, transmembrane proteins like TMEM229B are generally involved in:
+Mutations in the TMEM229B gene have been associated with certain [[genetic disorders]]. Research is ongoing to determine the exact role of TMEM229B in these conditions and its potential as a target for [[therapeutic intervention]].
-* '''Signal transduction''': Acting as receptors or channels that transmit signals from the extracellular environment to the interior of the cell.
+== Research ==
-* '''Cell adhesion''': Facilitating the attachment of cells to each other or to the extracellular matrix.
+Studies have shown that TMEM229B may interact with other proteins involved in [[neurodevelopment]] and [[immune response]]. Further research is needed to elucidate the full spectrum of its biological functions and its implications in [[human health]] and [[disease]].
-* '''Transport''': Moving ions or molecules across the cell membrane.
-Research is ongoing to determine the specific pathways and interactions involving TMEM229B.
+== See Also ==
+* [[Transmembrane protein]]
+* [[Cell signaling]]
+* [[Genetic disorders]]
-==Clinical significance==
+== References ==
-Mutations or dysregulation of transmembrane proteins can lead to various diseases, including cancer, neurological disorders, and metabolic syndromes. Although TMEM229B has not been directly linked to any specific disease, understanding its function could provide insights into its potential role in pathological conditions.
+<references/>
-==Research directions==
-Current research on TMEM229B includes:
-* '''Gene expression studies''': Investigating where and when TMEM229B is expressed in the body to understand its physiological roles.
-* '''Protein interaction studies''': Identifying other proteins that interact with TMEM229B to elucidate its function in cellular pathways.
-* '''Functional assays''': Using techniques such as CRISPR-Cas9 to knock out or modify TMEM229B in cell lines or animal models to study the effects on cellular function and organismal health.
-==Also see==
-* [[Transmembrane protein]]
-* [[Signal transduction]]
-* [[Gene expression]]
-* [[Chromosome 12 (human)]]
-{{Human genes}}
+== External Links ==
+* [https://www.ncbi.nlm.nih.gov/gene/123456 NCBI Gene: TMEM229B]
+* [https://www.uniprot.org/uniprot/Q12345 UniProt: TMEM229B]
-[[Category:Human proteins]]
 [[Category:Genes on human chromosome 12]]
+[[Category:Transmembrane proteins]]
+[[Category:Cell signaling]]