serine palmitoyltransferase 1 isoform b [Homo sapiens]

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Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1). [Genes (Basel). 2024]
Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Rochat J, Blavier A, Ruet S, Vasseur S, Puma A, Desnous B, Chan V, Delmont E, Attarian S, Juntas Morales R, et al. Genes (Basel). 2024 May 26; 15(6). Epub 2024 May 26.
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans. [Br J Dermatol. 2023]
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.
Jägle S, Hsu HH, Juratli HA, Zimmer AD, Prieschl A, Alter S, Wiedenhofer B, Metze D, Emmert S, Fischer J. Br J Dermatol. 2023 Jan 23; 188(1):94-99.
A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis. [Amyotroph Lateral Scler Fronto...]
A de novo c.113 T > C: p.L38R mutation of SPTLC1: case report of a girl with sporadic juvenile amyotrophic lateral sclerosis.
Liu X, He J, Yu W, Fan D. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Nov; 23(7-8):634-637. Epub 2022 Oct 7.

RefSeq genomic sequence
See the genomic reference sequence for the SPTLC1 gene (NG_007950.1).
RefSeq mRNA
See reference mRNA sequence for the SPTLC1 gene (NM_178324.3).
RefSeq protein isoforms
See 13 reference sequence protein isoforms for the SPTLC1 gene.

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NP_847894 [Domain Mapping of Disease Mut...]
NP_847894
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
serine palmitoyltransferase long chain base subunit 1 protein [Guide to Pharmacology]
serine palmitoyltransferase long chain base subunit 1 protein
Guide to Pharmacology
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
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

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