Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin p - Nucleotide

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A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred. [Genes (Basel). 2024]
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.
Usmani MA, Ghaffar A, Shahzad M, Akram J, Majeed AI, Malik K, Fatima K, Khan AA, Ahmed ZM, Riazuddin S, et al. Genes (Basel). 2024 May 2; 15(5). Epub 2024 May 2.
Emerging role and mechanism of HACE1 in the pathogenesis of neurodegenerative diseases: A promising target. [Biomed Pharmacother. 2024]
Emerging role and mechanism of HACE1 in the pathogenesis of neurodegenerative diseases: A promising target.
Zang C, Liu H, Ning J, Chen Q, Jiang Y, Shang M, Yang Y, Ma J, Dong Y, Wang J, et al. Biomed Pharmacother. 2024 Mar; 172:116204. Epub 2024 Feb 15.
HACE1 expression in heart failure patients might promote mitochondrial oxidative stress and ferroptosis by targeting NRF2. [Aging (Albany NY). 2023]
HACE1 expression in heart failure patients might promote mitochondrial oxidative stress and ferroptosis by targeting NRF2.
Yin P, Wu Y, Long X, Zhu S, Chen S, Lu F, Lin K, Xu J. Aging (Albany NY). 2023 Dec 6; 15(23):13888-13900. Epub 2023 Dec 6.

RefSeq alternative splicing
See 11 reference mRNA sequence splice variants for the HACE1 gene.

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Nucleotide