Katanin-Interacting Protein

Alternative Names

  • KATNIP
  • KIAA0556

Associated Diseases

Joubert Syndrome 26
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OMIM Number

616650

NCBI Gene ID

23247

Uniprot ID

O60303

Length

230,201 bases

No. of Exons

31

No. of isoforms

1

Protein Name

Katanin-interacting protein

Molecular Mass

180918 Da

Amino Acid Count

1618

Genomic Location

chr16:27,550,144-27,780,344

Gene Map Locus
16p12.1

Description

This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015202.5:c.2674C>TSaudi ArabiaNC_000016.10:g.27749634C>TLikely Pathogenic, PathogenicPathogenicJoubert Syndrome 26NG_046731.1:g.204488C>T; NM_015202.5:c.2674C>T; NP_056017.3:p.Gln892Ter864309712218948
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