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CABP4 Polyclonal Antibody, 50ul Long RNA Synthesis CSNB1 is a rare inherited

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CABP4 Polyclonal Antibody, 50ul Long RNA Synthesis CSNB1 is a rare inheritedThis gene encodes a member of the CABP family of calcium binding protein characterized by four EF hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene.

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Description

CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision| myopia| hyperopia| nystagmus and reduced visual acuity

It is involved in macrophage cholesterol and phospholipids transport

MARCH1 (membrane associated ring-CH-type finger 1) is a member of the MARCH family of membrane-bound E3 ubiquitin ligases

progressive sensorineural DFNA44 hearing loss

CABP4 Polyclonal Antibody, 50ul Long RNA Synthesis CSNB1 is a rare inheritedThis gene encodes a member of the CABP family of calcium binding protein characterized by four EF hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene.

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