protein mab-21-like 1 (MAB21L1, CAGR1, Nbla00126)

Function

• required for several aspects of embryonic development
• including normal development of the eye (putative)

Structure

belongs to the mab-21 family

Compartment

nucleus (putative)

Expression

• expressed in brain, cerebellum & skeletal muscle

Polymorphism

• a CAG trinucleotide repeat occurs in the 5'-UTR of gene
• repeat has been found to be highly polymorphic, although expanded alleles have not yet been definitely linked with any phenotypic abnormality

More general terms

• nuclear protein

Database

• OMIM: https://mirror.omim.org/entry/601280
• UniProt: http://www.uniprot.org/uniprot/Q13394.html