COLGALT1 Rabbit Polyclonal Antibody, 20ul Filtration Three transcript variants encoding the

Three transcript variants encoding the same protein have been found for this gene

Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy)

Mutations in CEP41 have been associated with Joubert Syndrome 15

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COLGALT1 Rabbit Polyclonal Antibody, 20ul Filtration Three transcript variants encoding theThe protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum.