LRRC50

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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
Ensembl
UniProt
RefSeq (mRNA)

NM_178452
NM_001318756

NM_026648

RefSeq (protein)

NP_001305685
NP_848547

NP_080924.1
NP_080924

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

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

Function[edit]

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[edit]

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

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: leucine rich repeat containing 50". 
  4. ^ a b 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[edit]

External links[edit]

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