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: 282808
MIM: 300405
HGNC: 25410
Ensembl: ENSG00000102128
Variants:
dbSNP: 282808
ClinVar: 282808
TCGA: ENSG00000102128
COSMIC: RAB40AL
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000102128 | ENST00000218249 | P0C0E4 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 25370018 | 2015 | A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene. | 3 |
| 25370018 | 2015 | A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene. | 3 |
| 24863632 | 2014 | Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report. | 3 |
| 25044830 | 2014 | Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome. | 4 |
| 24863632 | 2014 | Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report. | 3 |
| 25044830 | 2014 | Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome. | 4 |
| 22581972 | 2012 | Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. | 6 |
| 22581972 | 2012 | Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. | 6 |
Citation
Dessen P
RAB40AL (RAB40A like)
Atlas Genet Cytogenet Oncol Haematol. 2005-11-01
Online version: http://atlasgeneticsoncology.org/gene/43039/rab40al
