Property Summary

NCBI Gene PubMed Count 9
Grant Count 35
R01 Count 30
Funding $2,914,788.95
PubMed Score 58.78
PubTator Score 10.43

Knowledge Summary

Patent

No data available

Expression

Gene RIF (4)

PMID Text
25370018 Our findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation.
25044830 Data question the role of RAB40AL mutation as a disease-causing change and the involvement of RAB40AL in Martin-Probst syndrome.
24863632 We herein present an unrelated 20-year-old male with similar manifestations also with p.D59G in the RAB40AL gene, which supports the existence of this condition previously coined as Martin-Probst syndrome
22581972 This is the first study to show that mutation of RAB40AL is associated with a human disorder.

AA Sequence

MSAPGSPDQAYDFLLKFLLVGDRDVGKSEILESLQDGTAESPYSHLGGIDYKTTTILLDGQRVKLKLWDT      1 - 70
SGQGRFCTIFRSYSRGAQGVILVYDIANRWSFEGMDRWIKKIEEHAPGVPKILVGNRLHLAFKRQVPREQ     71 - 140
AQAYAERLGVTFFEVSPLCNFNIIESFTELARIVLLRHRLNWLGRPSKVLSLQDLCCRTIVSCTPVHLVD    141 - 210
KLPLPIALRSHLKSFSMAKGLNARMMRGLSYSLTTSSTHKRSSLCKVKIVCPPQSPPKNCTRNSCKIS      211 - 278
//

Text Mined References (9)

PMID Year Title
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.
25044830 2014 Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.
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.
22581972 2012 Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12145744 2002 The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.
12076535 2002 The SOCS box: a tale of destruction and degradation.