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簡(jiǎn)要描述:This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul
產(chǎn)品型號(hào):bsm-62511R
廠商性質(zhì):生產(chǎn)廠家
更新時(shí)間:2025-03-03
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