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FA2H Polyclonal Antibody, 20ul Peptide Modification which always presents with retinal

SKU: 95129405910

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FA2H Polyclonal Antibody, 20ul Peptide Modification which always presents with retinalThis gene encodes a protein that catalyzes the synthesis of 2 hydroxysphingolipids, a subset of sphingolipids that contain 2 hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2 hydroxylation of the N acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy

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Description

which always presents with retinal degeneration (SCA7)

Inward rectifier potassium channel 2

The protein (BMX non-receptor tyrosine kinase)contains a PH-like domain

it has been suggested that this transcription factor may be required for early trophoblast differentiation

FA2H Polyclonal Antibody, 20ul Peptide Modification which always presents with retinalThis gene encodes a protein that catalyzes the synthesis of 2 hydroxysphingolipids, a subset of sphingolipids that contain 2 hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2 hydroxylation of the N acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy

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