Biology:RSPH1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Radial spoke head 1 homolog (RSPH1), also known as cancer/testis antigen 79 (CT79) or testis-specific gene A2 protein (TSGA2), is a protein that in humans is encoded by the RSPH1 gene.[1]
Function
This protein is a part of axoneme, which forms the core of a cilium or flagellum.
Clinical significance
Mutations in RSPH1 are associated to Primary ciliary dyskinesia.[2]
References
- ↑ "RSPH1 radial spoke head component 1 [ Homo sapiens (human) "]. https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=89765.
- ↑ "Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects". Am. J. Hum. Genet. 93 (3): 561–70. September 2013. doi:10.1016/j.ajhg.2013.07.013. PMID 23993197.
Further reading
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia.". Gene 396 (1): 93–107. 2007. doi:10.1016/j.gene.2007.02.031. PMID 17451891.
- "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins.". BMC Genomics 7. 2006. doi:10.1186/1471-2164-7-155. PMID 16780588.
- "Mapping of eight testis-specific genes to mouse chromosomes.". Genomics 46 (1): 138–42. 1997. doi:10.1006/geno.1997.5014. PMID 9403069.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Molecular cloning and characterization of meichroacidin (male meiotic metaphase chromosome-associated acidic protein).". Dev. Biol. 197 (1): 67–76. 1998. doi:10.1006/dbio.1998.8885. PMID 9578619.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
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