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l(2)efl - lethal (2) essential for life

Predicted to enable unfolded protein binding activity. Involved in several processes, including protein refolding; response to heat; and sarcomere organization. Located in Z disc and perinuclear region of cytoplasm. Is expressed in adult head; adult heart; larval muscle cell; and larval muscle system. Used to study myofibrillar myopathy 2. Human ortholog(s) of this gene implicated in cataract 16 multiple types; cataract 9 multiple types; dilated cardiomyopathy 1II; fatal infantile hypertonic myofibrillar myopathy; and myofibrillar myopathy 2. Orthologous to several human genes including CRYAA (crystallin alpha A). [provided by Alliance of Genome Resources, Dec 2024]

Genes similar to l(2)efl

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Species Gene Architecture aa