EML1 gene

echinoderm microtubule associated protein like 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se.

From NCBI Gene:

  • Band heterotopia of brain

From UniProt:

Mutations in this gene are associated with atypical heterotopia, epilepsy and mental retardation. Patients present giant bilateral periventricular and ribbon-like subcortical heterotopia with polymicrogyria and agenesis of the corpus callosum.

Cytogenetic Location: 14q32.2, which is the long (q) arm of chromosome 14 at position 32.2

Molecular Location: base pairs 99,737,699 to 99,942,060 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q32.2, which is the long (q) arm of chromosome 14 at position 32.2
  • BH
  • ELP79
  • EMAP
  • EMAPL
  • HuEMAP