LRRC50

DNAAF1
Identifiers
Aliases DNAAF1, CILD13, LRRC50, ODA7, dynein (axonemal) assembly factor 1
External IDs MGI: 1915520 HomoloGene: 12256 GeneCards: DNAAF1
Orthologs
Species Human Mouse
Entrez

123872

68270

Ensembl

ENSG00000154099

ENSMUSG00000031831

UniProt

Q8NEP3

Q9D2H9

RefSeq (mRNA)

NM_178452
NM_001318756

NM_026648

RefSeq (protein)

NP_848547.4
NP_001305685.1

NP_080924.1

Location (UCSC) Chr 16: 84.15 – 84.18 Mb Chr 8: 119.58 – 119.6 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.[3][4]

Function

Leucine-rich repeat-containing protein 50 is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli.[3]

Clinical significance

Mutations in the LRRC50 gene are associated with primary ciliary dyskinesia.[4]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 1 2 "Entrez Gene: leucine rich repeat containing 50".
  4. 1 2 Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S (December 2009). "Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia". Am. J. Hum. Genet. 85 (6): 890–6. doi:10.1016/j.ajhg.2009.11.008. PMC 2790569Freely accessible. PMID 19944405.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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