cleft lip & palate transmembrane protein 1 (CLPTM1)

Function

• role in T-cell development (putative)

Compartment

membrane

Alternative splicing

named isoforms=2

Expression

widely expressed

Pathology

• chromosomal translocation t(2;19)(q11.2;q13.3) involving CLPTM1 is found in a family with cleft lip & palate
  • no etiologic link with the disease is characterized

More general terms

• transmembrane 5 protein

Database

• OMIM: https://mirror.omim.org/entry/604783
• UniProt: http://www.uniprot.org/uniprot/O96005.html