Homo sapiens CLN3 lysosomal/endosomal transmembrane protein, battenin - Nucleotide

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CLN3 deficiency leads to neurological and metabolic perturbations during early development. [Life Sci Alliance. 2024]
CLN3 deficiency leads to neurological and metabolic perturbations during early development.
Heins-Marroquin U, Singh RR, Perathoner S, Gavotto F, Merino Ruiz C, Patraskaki M, Gomez-Giro G, Kleine Borgmann F, Meyer M, Carpentier A, et al. Life Sci Alliance. 2024 Mar; 7(3). Epub 2024 Jan 9.
Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation. [Nat Commun. 2023]
Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.
Calcagni' A, Staiano L, Zampelli N, Minopoli N, Herz NJ, Di Tullio G, Huynh T, Monfregola J, Esposito A, Cirillo C, et al. Nat Commun. 2023 Jul 3; 14(1):3911. Epub 2023 Jul 3.
The Batten disease protein CLN3 is important for stress granules dynamics and translational activity. [J Biol Chem. 2023]
The Batten disease protein CLN3 is important for stress granules dynamics and translational activity.
Relton EL, Roth NJ, Yasa S, Kaleem A, Hermey G, Minnis CJ, Mole SE, Shelkovnikova T, Lefrancois S, McCormick PJ, et al. J Biol Chem. 2023 May; 299(5):104649. Epub 2023 Mar 24.

RefSeq alternative splicing
See 12 reference mRNA sequence splice variants for the CLN3 gene.
RefSeq protein product
See the reference protein sequence for battenin isoform d (NP_001273038.1).

Protein
Protein sequence from Nucleotide coding region
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Athletic Tape
Athletic Tape
Adhesive tape with the mechanical strength to resist stretching. It is applied to the skin to support, stabilize, and restrict movement to aid healing and/or prevent injuries ...<br/>Year introduced: 2009

MeSH
Kinesio Tape (1)
MeSH
putative protein-lysine deacylase ABHD14B isoform 1 [Homo sapiens]
putative protein-lysine deacylase ABHD14B isoform 1 [Homo sapiens]
gi|226443152|ref|NP_001139786.1|

Protein
Genu Valgum
Genu Valgum
An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS...<br/>Year introduced: 2010

MeSH

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Nucleotide