SMD3 Polyclonal Antibody, 20ul Bio-Reaction Tube Mutations in this gene are

Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10)

A pseudogene of this gene is located on chromosome 10

In mammals| the mucolipin family includes 3 members| MCOLN1 (MIM 605248)| MCOLN2| and MCOLN3 (MIM 607400)| that exhibit a common 6-membrane-spanning topology

CHRNA1 encodes an alpha subunit that plays a role in acetlycholine binding/channel gating

SMD3 Polyclonal Antibody, 20ul Bio-Reaction Tube Mutations in this gene areThis gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre mRNA splicing. Alternative splicing results in multiple transcript variants.