Protein Domain : BEACH domain IPR000409

Type  Domain
Description  BEACH (Beige and Chediak-Higashi) domains, implicated in membrane trafficking, are present in a family of proteins conserved throughout eukaryotes. This group contains human lysosomal trafficking regulator (LYST), LPS-responsive and beige-like anchor (LRBA) and neurobeachin. Disruption of LYST leads to Chediak-Higashi syndrome, characterized by severe immunodeficiency, albinism, poor blood coagulation and neurologic problems. Neurobeachin is a candidate gene linked to autism. LBRA seems to be upregulated in several cancer types. It has been shown that the BEACH domain itself is important for the function of these proteins [ , , , , , , , ].The BEACH domain is usually followed by a series of WD repeats.
Short Name  BEACH_dom

0 Child Features

5 Gene Families

498 Genes

0 Ontology Annotations

0 Parent Features

14 Publications

USDA
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