Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4081
MIM: 601280
HGNC: 6757
Ensembl: ENSG00000180660
Variants:
dbSNP: 4081
ClinVar: 4081
TCGA: ENSG00000180660
COSMIC: MAB21L1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000180660 | ENST00000379919 | Q13394 |
| ENSG00000180660 | ENST00000379919 | F1T0A2 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36446583 | 2023 | Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects. | 1 |
| 36892533 | 2023 | Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome. | 2 |
| 36446583 | 2023 | Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects. | 1 |
| 36892533 | 2023 | Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome. | 2 |
| 36413568 | 2022 | Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. | 2 |
| 36413568 | 2022 | Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. | 2 |
| 33973683 | 2021 | Identification of missense MAB21L1 variants in microphthalmia and aniridia. | 10 |
| 33973683 | 2021 | Identification of missense MAB21L1 variants in microphthalmia and aniridia. | 10 |
| 30487245 | 2019 | MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). | 16 |
| 30487245 | 2019 | MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). | 16 |
| 27103078 | 2017 | Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. | 10 |
| 29156428 | 2017 | Involvement of the Mab21l1 gene in calvarial osteogenesis. | 6 |
| 27103078 | 2017 | Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. | 10 |
| 29156428 | 2017 | Involvement of the Mab21l1 gene in calvarial osteogenesis. | 6 |
| 27271801 | 2016 | Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1. | 24 |
Citation
Dessen P
MAB21L1 (mab-21 like 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56023/mab21l1-(mab-21-like-1)
