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, syndromic 14

From UniProt:

Microphthalmia, syndromic, 14 (MCOPS14): A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS14 patients exhibit bilateral colobomatous microphthalmia or bilateral anophthalmia. Intellectual disability and rhizomelic skeletal dysplasia is present in some affected individuals. [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 108, GRCh38.p7) (NCBI)

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