Homo sapiens vacuolar protein sorting 13 homolog D (VPS13D), transcrip - Nucleotide

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Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family. [Clin Neurol Neurosurg. 2024]
Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family.
Algahtani H, Shirah B, Naseer MI. Clin Neurol Neurosurg. 2024 May; 240:108271. Epub 2024 Mar 30.
Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders. [Gene. 2024]
Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.
Sultan T, Scorrano G, Panciroli M, Christoforou M, Raza Alvi J, Di Ludovico A, Qureshi S, Efthymiou S, Salpietro V, Houlden H. Gene. 2024 Mar 20; 899:148119. Epub 2023 Dec 29.
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis. [J Biol Chem. 2023]
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.
Kiss RS, Chicoine J, Khalil Y, Sladek R, Chen H, Pisaturo A, Martin C, Dale JD, Brudenell TA, Kamath A, et al. J Biol Chem. 2023 Nov; 299(11):105295. Epub 2023 Sep 28.

RefSeq alternative splicing
See the other reference mRNA sequence splice variant for the VPS13D gene (NM_018156.4).
RefSeq protein product
See the reference protein sequence for intermembrane lipid transfer protein VPS13D isoform 1 (NP_056193.2).

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Protein sequence from Nucleotide coding region
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Homo sapiens vacuolar protein sorting 13 homolog D (VPS13D), transcript variant ...
Homo sapiens vacuolar protein sorting 13 homolog D (VPS13D), transcript variant 1, mRNA
gi|1388704174|ref|NM_015378.4|

Nucleotide

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Nucleotide