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 a) ovarian serous adenocarcinoma b) metastatic breast carcinoma

Related

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

Properties

SIZE: entity length = 2694 aa MW = 307 kD COMPARTMENT: cytoplasm MOTIF: beach domain {1992-2284} WD repeat {2439-2478} WD repeat {2490-2531}

Database Correlations

OMIM 609816 UniProt Q6ZS30 PFAM correlations Entrez Gene 65065 Kegg hsa:65065

References

UniProt :accession Q6ZS30