Kinocilin is a 124 amino acid multi-pass membrane protein that may play a role in the stabilization of dense microtubular networks, and may also participate in vesicular trafficking. Existing as two alternatively spliced isoforms, the gene encoding Kinocilin maps to human chromosome 1p33 and mouse chromosome 4 D1. Chromosome 1 spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. A large number of disease-associated genes are present on chromosome 1, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.
Function:
May plays a role in stabilizing dense microtubular networks or in vesicular trafficking.
Subcellular Location:
Membrane.
SWISS:
A6PVL3
Gene ID:
148930
Database links:
Entrez Gene: 148930 Human
Omim: 611455 Human
SwissProt: A6PVL3 Human
Unigene: 350764 Human
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