Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Function:
May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic.
Subcellular Location:
Cytoplasm; cytoskeleton.
Tissue Specificity:
Ubiquitous; expressed in most tissues with the exception of thymus and peripheral blood lymphocytes.
Similarity:
Belongs to the WD repeat EMAP family.
Contains 10 WD repeats.
SWISS:
O00423
Gene ID:
2009
Database links:
Entrez Gene: 2009 Human
Entrez Gene: 68519 Mouse
Entrez Gene: 362783 Rat
GenBank: NP_001008707 Human
Omim: 602033 Human
SwissProt: O00423 Human
SwissProt: Q05BC3 Mouse
SwissProt: Q4V8C3 Rat
Unigene: 12451 Human
Unigene: 236645 Mouse
Unigene: 211693 Rat
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