RecName: Full=Phosphatidylserine lipase ABHD16A; AltName: Full=Alpha/b - Protein

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A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face. [Clin Genet. 2022]
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.
Miyake N, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A, Uchiyama Y, et al. Clin Genet. 2022 Mar; 101(3):359-363. Epub 2021 Dec 13.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. [Am J Hum Genet. 2021]
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, et al. Am J Hum Genet. 2021 Oct 7; 108(10):2017-2023. Epub 2021 Sep 28.
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia. [Front Neurol. 2021]
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N, Abubaker R, et al. Front Neurol. 2021; 12:720201. Epub 2021 Aug 20.

RefSeq protein isoforms
See 2 reference sequence protein isoforms for the ABHD16A gene.

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O95870 [Domain Mapping of Disease Mut...]
O95870
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
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reagent reviews [ExactAntigen/Labome]
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RecName: Full=Phosphatidylserine lipase ABHD16A; AltName: Full=Alpha/beta hydrol...
RecName: Full=Phosphatidylserine lipase ABHD16A; AltName: Full=Alpha/beta hydrolase domain-containing protein 16A; Short=Abhydrolase domain-containing protein 16A; AltName: Full=HLA-B-associated transcript 5; Short=hBAT5; AltName: Full=Monoacylglycerol lipase ABHD16A; AltName: Full=Protein G5
gi|23813746|sp|O95870.3|ABHGA_HUMAN

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