Protein KIAA0556
The KIAA0556 gene encodes a ciliary protein that is found at the base and at the tip of cilia. Mutations cause autosomal recessive Joubert syndrome 26.
Genetests:
Related Diseases:
References:
1. |
Nagase T et al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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2. |
Sanders AA et al. (2015) KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
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3. |
Roosing S et al. (2016) Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
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4. |
NCBI article
NCBI 23247
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5. |
OMIM.ORG article
Omim 616650
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6. |
Orphanet article
Orphanet ID 448873
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Update: Aug. 14, 2020