MAB21L1 gene

mab-21 like 1

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

From NCBI Gene:

This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]

From UniProt:

Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (PubMed:27103078, PubMed:30487245). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801).

From NCBI Gene:

  • CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME

From UniProt:

Cerebellar, ocular, craniofacial, and genital syndrome (COFG): An autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis. [MIM:618479]

Cytogenetic Location: 13q13.3, which is the long (q) arm of chromosome 13 at position 13.3

Molecular Location: base pairs 35,473,789 to 35,476,689 on chromosome 13 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 13q13.3, which is the long (q) arm of chromosome 13 at position 13.3
  • CAGR1
  • COFG
  • Nbla00126