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Tetratricopeptide repeat domain 21b

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TTC21B
Identifiers
AliasesTTC21B, ATD4, IFT139, JBTS11, NPHP12, SRTD4, THM1, Nbla10696, IFT139B, tetratricopeptide repeat domain 21B, FAP60, FLA17
External IDsOMIM: 612014; MGI: 1920918; HomoloGene: 57006; GeneCards: TTC21B; OMA:TTC21B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024753

NM_001047604
NM_001290669

RefSeq (protein)

NP_079029

NP_001041069
NP_001277598

Location (UCSC)Chr 2: 165.86 – 165.95 MbChr 2: 66.01 – 66.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tetratricopeptide repeat domain 21B is a protein that in humans is encoded by the TTC21B gene.[5]

Function

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This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011].

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000123607Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034848Ensembl, 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. ^ "Entrez Gene: Tetratricopeptide repeat domain 21B". Retrieved 2018-10-23.

Further reading

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