ER6L2 Rabbit Polyclonal Antibody, 20ul Digital Burette non-epidermolytic palmoplantar keratoderma and unilateral

non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus

which represents an unusual regulatory mode for controlling the precise expression of a single gene

and requires a beta subunit called barttin to form a functional channel

Defects in SIX1 are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3)

NMS encodes a member of the neuromedin family of neuropeptides

ER6L2 Rabbit Polyclonal Antibody, 20ul Digital Burette non-epidermolytic palmoplantar keratoderma and unilateralThis gene encodes a member of the Snf2 family of helicase like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described.