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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
General
nuclear protein
Properties
SIZE: entity length = 359 aa
MW = 41 kD
COMPARTMENT: cell nucleus
Database Correlations
OMIM 601280
UniProt Q13394
Pfam PF03281
References
UniProt :accession Q13394