IFTAP

Chr 11

intraflagellar transport associated protein

Also known as: C11orf74, HEPIS, NWC

NCBI Gene: 119710 ENSG00000166352 UniProt: Q86VG3

The encoded protein appears to function as a negative regulator of transcription and may be involved in ciliary BBSome localization through interaction with the IFT-A complex. Mutations in IFTAP cause autosomal recessive developmental disorders affecting multiple systems. The gene shows low constraint to loss-of-function variation, with clinical presentations typically involving developmental delay and potentially ciliopathy-related features.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.66

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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