Anti-MYO7A (aa 2118-2213) polyclonal antibody

Species Reactivity

Human

Immunogen

MYO7A (NP_000251, 2118 a.a. ~ 2213 a.a) partial recombinant protein with GST tag. The sequence is KQTTEPNFPEILLIAINKYGVSLIDPKTKDILTTHPFTKISNWSSGNTYFHITIGNLVRG SKLLCETSLGYKMDDLLTSYISQMLTAMSKQRGSRS

Conjugate

General Notes

This antibody reacts with MYO7A (aa 2118-2213) partial recombinant protein. MYO7A (myosin VIIA) is a motor protein encoded by the MYO7A gene, playing a crucial role in the inner ear, retina, and hair cells. It is involved in intracellular transport, especially in the transport of proteins and vesicles within the cells of the retina and cochlea. Mutations in MYO7A are associated with non-syndromic hearing loss and Usher syndrome type 1, a disorder that causes both hearing loss and progressive vision impairment.

Alternative Names

MYO7A; myosin VIIA; DFNB2; MYU7A; NSRD2; USH1B; DFNA11; MYOVIIA; unconventional myosin-VIIa; myosin VIIA (Usher syndrome 1B (autosomal recessive, severe));

Entrez Gene ID

UniProt ID

Antigen Description

This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants.

Pathway

Disease; Signal Transduction; Visual phototransduction;