LRRC37A
| LRRC37A | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | LRRC37A, LRRC37, leucine rich repeat containing 37A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 616555; HomoloGene: 86710; GeneCards: LRRC37A; OMA:LRRC37A - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Leucine rich repeat containing 37A is a protein in humans that is encoded by the LRRC37A gene.[3]
The LRRC37 gene family has been expanded in the genome of the simians through segmental duplications leading to new genes in simian, hominid and human species. Most of these new genes belong to the ancestral LRRC37A-type.[4] The human genomes contains at least 4 encoding gene paralogs with 3 of the ancestral type: LRRC37A, LRRC37A2, LRRC37A3 and a new type of receptor shared between hominid species: LRRC37B.[4]
In the human cerebral cortex, LRRC37B is selectively expressed in pyramidal neurons at the level of the axon initial segment, which is not found in other nonhuman primate species (chimpanzees, macaques). It decreases there the excitability of the neurons, a feature specific to the human species compared to other mammalian species. It acts by binding to secreted FGF13A and SCN1B which leads to an inhibition of the voltage-gate sodium channels which generate the action potentials.[5]
References
[edit]- 1 2 3 ENSG00000176681 GRCh38: Ensembl release 89: ENSG00000278742, ENSG00000176681 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: Leucine rich repeat containing 37A". Retrieved 2012-07-24.
- 1 2 Giannuzzi G, Siswara P, Malig M, Marques-Bonet T, Program NC, Mullikin JC, Ventura M, Eichler EE (2013-01-01). "Evolutionary dynamism of the primate LRRC37 gene family". Genome Research. 23 (1): 46–59. doi:10.1101/gr.138842.112. ISSN 1088-9051. PMC 3530683. PMID 23064749.
- ↑ Libé-Philippot B, Lejeune A, Wierda K, Louros N, Erkol E, Vlaeminck I, Beckers S, Gaspariunaite V, Bilheu A, Konstantoulea K, Nyitrai H, De Vleeschouwer M, Vennekens KM, Vidal N, Bird TW (December 2023). "LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons". Cell. 186 (26): 5766–5783.e25. doi:10.1016/j.cell.2023.11.028. ISSN 0092-8674. PMC 10754148. PMID 38134874.
Further reading
[edit]- Jin H, Selfe J, Whitehouse C, Morris JR, Solomon E, Roberts RG (Dec 2004). "Structural evolution of the BRCA1 genomic region in primates". Genomics. 84 (6): 1071–82. doi:10.1016/j.ygeno.2004.08.019. PMID 15533724.
 | This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by adding missing information. |