ALS 2 chromosomal region candidate gene protein 4; transmembrane protein 237 (ALS2CR4 TMEM237)

Function

• component of the transition zone in primary cilia
• required for ciliogenesis

Structure

belongs to the TMEM237 family

Compartment

• membrane
• cell projection, cilium
• localizes at the proximal region of primary cilia, consistent with localization to the transition zone
• anchored to the transition zone by RPGRIP1L

Alternative splicing

named isoforms=5

Pathology

• defects in TMEM237 are the cause of Joubert syndrome type 14

More general terms

• transmembrane 4 protein

Additional terms

• 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=65062
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:65062
• OMIM: https://mirror.omim.org/entry/614423
• OMIM: https://mirror.omim.org/entry/614424
• UniProt: http://www.uniprot.org/uniprot/Q96Q45.html