vacuolar protein sorting-associated protein 13B; Cohen syndrome protein 1 (VPS13B, CHS1, COH1, KIAA0532)

Function

• may be involved in protein sorting in post Golgi membrane traffic (putative)

Structure

belongs to the VPS13 family

Alternative splicing

named isoforms=6

Expression

• widely expressed
• differential expression of different transcripts
  • in fetal brain, lung, liver, & kidney, two transcripts of 2 & 5 kb are identified
    • these transcripts are also seen in all adult tissues analyzed
  • a larger transcript (12-14 kb) is expressed in prostate, testis, ovary, & colon in the adult
    • expression is very low in adult brain tissue
• isoform 1 & isoform 2 are expressed in brain & retina
• isoform 2 is expressed ubiquitously

Pathology

• defects in VPS13B are a cause of Cohen syndrome

More general terms

• phosphoprotein

Additional terms

• Cohen syndrome; Pepper syndrome; cerebral obesity ocular skeletal syndrome

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=157680
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:157680
• OMIM: https://mirror.omim.org/entry/216550
• OMIM: https://mirror.omim.org/entry/607817
• UniProt: http://www.uniprot.org/uniprot/Q7Z7G8.html