acyl-CoA-binding domain-containing protein 6 [Homo sapiens]

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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. [Brain. 2024]
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, et al. Brain. 2024 Apr 4; 147(4):1436-1456.
Dual Role of ACBD6 in the Acylation Remodeling of Lipids and Proteins. [Biomolecules. 2022]
Dual Role of ACBD6 in the Acylation Remodeling of Lipids and Proteins.
Soupene E, Kuypers FA. Biomolecules. 2022 Nov 22; 12(12). Epub 2022 Nov 22.
Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome: A Case Report. [Neurol Genet. 2023]
Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome: A Case Report.
Yeetong P, Tanpowpong N, Rakwongkhachon S, Suphapeetiporn K, Shotelersuk V. Neurol Genet. 2023 Feb; 9(1):e200046. Epub 2022 Nov 29.

RefSeq mRNA
See reference mRNA sequence for the ACBD6 gene (NM_032360.4).
RefSeq protein isoforms
See 13 reference sequence protein isoforms for the ACBD6 gene.

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NP_115736 [Domain Mapping of Disease Mut...]
NP_115736
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
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