MAB21L2 gene

mab-21 like 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]

From UniProt:

Required for several aspects of embryonic development including normal development of the eye.

From NCBI Gene:

  • Microphthalmia/coloboma and skeletal dysplasia syndrome

From UniProt:

Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS): A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients. [MIM:615877]

Cytogenetic Location: 4q31.3, which is the long (q) arm of chromosome 4 at position 31.3

Molecular Location: base pairs 150,581,925 to 150,584,693 on chromosome 4 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 4q31.3, which is the long (q) arm of chromosome 4 at position 31.3
  • MCOPS14
  • MCSKS14