KIAA0556 protein [Homo sapiens]

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Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. [Hum Genet. 2016]
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
Roosing S, Rosti RO, Rosti B, de Vrieze E, Silhavy JL, van Wijk E, Wakeling E, Gleeson JG. Hum Genet. 2016 Aug; 135(8):919-921. Epub 2016 May 31.
The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia. [Mol Cell Biol. 2023]
The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia.
Turner JS, McCabe EA, Kuang KW, Gailey CD, Brautigan DL, Limerick A, Wang EX, Fu Z. Mol Cell Biol. 2023; 43(9):472-480. Epub 2023 Sep 4.
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review. [BMC Pediatr. 2020]
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, et al. BMC Pediatr. 2020 Mar 12; 20(1):120. Epub 2020 Mar 12.

RefSeq genomic sequence
See the genomic reference sequence for the KATNIP gene (NG_046731.2).
RefSeq protein isoforms
See 39 reference sequence protein isoforms for the KATNIP gene.

Nucleotide
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Protein