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ER6L2 Rabbit Polyclonal Antibody, 20ul Digital Burette With its ergonomic design

SKU: 96860729227

4.8
EUR97.20 EUR135.20

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ER6L2 Rabbit Polyclonal Antibody, 20ul Digital Burette With its ergonomic designThis 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.

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Description

With its ergonomic design

non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus

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)

ART1 (ADP-ribosyltransferase 1) was previously designated ART2

ER6L2 Rabbit Polyclonal Antibody, 20ul Digital Burette With its ergonomic designThis 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.

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