Property Summary

NCBI Gene PubMed Count 15
Grant Count 9
Funding $340,362.5
PubMed Score 16.72
PubTator Score 11.00

Knowledge Summary

Patent

No data available

Expression

MLP Assay (3)

AID Type Active / Inconclusive / Inactive Description
651979 other 1 / 0 / 0 Late stage assay provider results from the probe development effort to identify selective inhibitors of LYPLA1: LCMS-based cell-based Activity-Based Protein Profiling (ABPP) SILAC selectivity analysis in situ
651980 other 1 / 0 / 0 Late stage assay provider results from the probe development effort to identify selective inhibitors of LYPLA2: LCMS-based cell-based Activity-Based Protein Profiling (ABPP) SILAC selectivity analysis in situ
743137 other 1 / 0 / 0 Late stage assay provider results from the extended probe development effort to identify inhibitors of LYPLA1 and LYPLA2: LCMS-based cell-based Activity-Based Protein Profiling (ABPP) SILAC selectivity analysis

Gene RIF (7)

PMID Text
25743180 ABHD12 mutation in 2 PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract)patients who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems.
24697911 Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12.
24027063 This is the first report of compound heterozygosity in PHARC and the first study to describe how a mutation might affect ABHD12 expression and function.
23490117 ABHD12 mutations are not a frequent cause of ataxia at least in Southern Italy
22969151 Data show that the three hydrolases are genuine MAG lipases; medium-chain saturated MAGs were the best substrates for hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and 2-isomers of arachidonoylglycerol.
22938382 After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy
20797687 Mutations in the ABHD12 gene cause polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract disease.

AA Sequence

MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWL      1 - 70
RLRKILFCVLGLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGV     71 - 140
WHTVPAVWWKNAQGKDQMWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGD    141 - 210
SVGTPSERGMTYDALHVFDWIKARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIRE    211 - 280
EAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQLGRKLYSIAAP    281 - 350
ARSFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQH                          351 - 398
//

Text Mined References (18)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25743180 2015 Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
25290914 2014 Biochemical and pharmacological characterization of the human lymphocyte antigen B-associated transcript 5 (BAT5/ABHD16A).
24697911 2014 Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
24027063 2013 Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
23490117 2013 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population.
22969151 2012 Biochemical and pharmacological characterization of human ?/?-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12).
22938382 2012 Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
21269460 2011 Initial characterization of the human central proteome.
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