RSPH9

Last updated
RSPH9
Identifiers
Aliases RSPH9 , C6orf206, CILD12, MRPS18AL1, radial spoke head 9 homolog, radial spoke head component 9
External IDs OMIM: 612648 MGI: 1922814 HomoloGene: 12606 GeneCards: RSPH9
Orthologs
SpeciesHumanMouse
Entrez

221421

75564

Ensembl

ENSG00000172426

ENSMUSG00000023966

UniProt

Q9H1X1

Q9D9V4

RefSeq (mRNA)

NM_001193341
NM_152732

NM_029338

RefSeq (protein)

NP_001180270
NP_689945

NP_083614

Location (UCSC) Chr 6: 43.65 – 43.67 Mb Chr 17: 46.43 – 46.46 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Radial spoke head protein 9 homolog is a protein that in humans is encoded by the RSPH9 gene. [5] [6]

Contents

Function

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagellawhich then releases antibodies . [5]

Clinical significance

Mutation in this gene are associated with primary ciliary dyskinesia. [6]

Related Research Articles

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ZFP106 Protein-coding gene in the species Homo sapiens

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TTC8

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BBS9 Gene of the species Homo sapiens

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LRRC50

Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.

RSPH4A Protein-coding gene in the species Homo sapiens

Radial spoke head protein 4 homolog A, also known as radial spoke head-like protein 3, is a protein that in humans is encoded by the RSPH4A gene.

RSPH10B

Radial spoke head 10 homolog B2 is a protein that in humans is encoded by the RSPH10B gene.

RSPH6A Protein-coding gene in the species Homo sapiens

Radial spoke head protein 6 homolog A (RSPH6A) also known as radial spoke head-like protein 1 (RSHL1) is a protein that in humans is encoded by the RSPH6A gene.

RSPH3 Protein-coding gene in the species Homo sapiens

Radial spoke head protein 3 homolog (RSPH3), also known as radial spoke head-like protein 2 (RSHL2), is a protein that in humans is encoded by the RSPH3 gene.

RSPH1 Protein-coding gene in the species Homo sapiens

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.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000172426 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000023966 - 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. 1 2 "Entrez Gene: radial spoke head 9 homolog (Chlamydomonas)".
  6. 1 2 Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM (February 2009). "Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities". Am. J. Hum. Genet. 84 (2): 197–209. doi:10.1016/j.ajhg.2009.01.011. PMC   2668031 . PMID   19200523.

Further reading


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