phosphatidylserine lipase ABHD16A isoform b [Homo sapiens]

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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 mRNA
See reference mRNA sequence for the ABHD16A gene (NM_001177515.2).
RefSeq protein isoforms
See the other reference sequence protein isoform for the ABHD16A gene (NP_066983.1).

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GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
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