RecName: Full=F-actin-capping protein subunit alpha-2; AltName: Full=C - Protein

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Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review. [J Hum Genet. 2024]
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.
Zhang XM, Xu KL, Kong JH, Dong G, Dong SJ, Yang ZX, Xu SJ, Wang L, Luo SY, Zhang YD, et al. J Hum Genet. 2024 May; 69(5):197-203. Epub 2024 Feb 19.
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. [Hum Mol Genet. 2020]
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
Huang Y, Mao X, van Jaarsveld RH, Shu L, Terhal PA, Jia Z, Xi H, Peng Y, Yan H, Yuan S, et al. Hum Mol Genet. 2020 Jun 3; 29(9):1537-1546.
Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors. [Elife. 2021]
Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors.
Wang D, Ye Z, Wei W, Yu J, Huang L, Zhang H, Yue J. Elife. 2021 Nov 19; 10. Epub 2021 Nov 19.

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RecName: Full=Melanocyte-stimulating hormone receptor; Short=MSH-R; AltName: Ful...
RecName: Full=Melanocyte-stimulating hormone receptor; Short=MSH-R; AltName: Full=Melanocortin receptor 1; Short=MC1-R
gi|48428436|sp|Q864K6.1|MSHR_NOMCO

Protein
Conjunctival icterus
Conjunctival icterus

MedGen
Cyanosis, transient neonatal
Cyanosis, transient neonatal

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