neurobeachin-like 1; ALS 2 chromosomal region candidate gene protein 16/17 (ALS2CR16, ALS2CR17, NBEAL1)

Structure

• belongs to the WD repeat neurobeachin family
• contains 1 BEACH domain
• contains 2 WD repeats

Alternative splicing

named isoforms=2

Expression

• expressed in brain, kidney, prostate, testis > ovary, small intestine, colon, peripheral blood leukocytes

Pathology

• highly expressed in brain, kidney, prostate & testis
• weakly expressed in ovary, small intestine, colon & peripheral blood leukocytes
• expression may correlative with tumorigenesis
  • ovarian serous adenocarcinoma
  • metastatic breast carcinoma

More general terms

• cytoskeletal protein

Additional terms

• amyotrophic lateral sclerosis (ALS); Lou Gerig's disease
• amyotrophic lateral sclerosis [ALS] 2 chromosomal region candidate gene

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=65065
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:65065
• OMIM: https://mirror.omim.org/entry/609816
• UniProt: http://www.uniprot.org/uniprot/Q6ZS30.html