Human EFHD2 ELISA Kit

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SKU:
HUFI02021
Product Type:
ELISA Kit
Size:
96 Assays
Uniprot:
Q96C19
Sensitivity:
0.188ng/ml
Range:
0.313-20ng/ml
ELISA Type:
Sandwich
Synonyms:
EFHD2, SWS1, Swiprosin-1
Reactivity:
Human
Research Area:
Signal Transduction

Description

Human EFHD2 ELISA

EFHD2 belongs to a subgroup of ubiquitin E3 ligases that are associated with transmembrane epidermal growth factor receptors. EFHD2 is expressed in almost all tissues and the highest level of expression was evident in skeletal muscle. Mutations in EFHD2 have been linked to recessive Stargardt disease type 3 (STGD3), an autosomal-recessive form of early-onset macular dystrophy. EFHD2 is also associated with the pathology of amyotrophic lateral sclerosis (ALS).

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