sptlc2 Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (202)

Interactants (83)

XB-GENEPAGE-946142

Gene Symbol: sptlc2 Gene Name: serine palmitoyltransferase, long chain base subunit 2

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (10 sources): Abnormal foot morphology, Anhidrosis, Autoamputation, Distal muscle weakness, Distal sensory impairment, Dysesthesia, Osteomyelitis, Sensorimotor neuropathy, Skin ulcer, obsolete Distal sensory loss of all modalities
Mouse (39 sources): abnormal Langerhans cell morphology, abnormal Langerhans cell physiology, abnormal ceramide level, abnormal circulating lipid level, abnormal dendritic epidermal T cell morphology, abnormal epidermal lamellar body morphology, abnormal epidermis stratum corneum morphology, abnormal epidermis stratum granulosum morphology, abnormal intestinal mucosa morphology, abnormal large intestine crypts of Lieberkuhn morphology, abnormal lipid level, abnormal pancreatic acinar cell zymogen granule morphology, abnormal small intestine crypts of Lieberkuhn morphology, abnormal sphingomyelin level, abnormal thymus morphology, absent epidermis stratum granulosum, acanthosis, cellular necrosis, decreased bone marrow cell number, decreased spleen weight, decreased thymus weight, delayed skin barrier formation, embryonic lethality prior to organogenesis, epidermal hyperplasia, impaired skin barrier function, increased T-helper 17 cell number, increased adrenal gland weight, increased cholesterol efflux, increased circulating alanine transaminase level, increased circulating phospholipid level, increased dendritic cell number, increased erythrocyte cell number, increased gamma-delta T cell number, increased neutrophil cell number, premature death, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, sebaceous gland atrophy, skin lesions [+]
View all ortholog results at Monarch