sterile alpha motif domain-containing protein 7 [Homo sapiens]

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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction. [Am J Hum Genet. 2024]
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, Webster AR, Van Den Broeck F, Leroy BP, Rizel L, et al. Am J Hum Genet. 2024 Feb 1; 111(2):393-402. Epub 2024 Jan 24.
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7. [Sci Rep. 2016]
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.
Van Schil K, Karlstetter M, Aslanidis A, Dannhausen K, Azam M, Qamar R, Leroy BP, Depasse F, Langmann T, De Baere E. Sci Rep. 2016 Feb 18; 6:21307. Epub 2016 Feb 18.
Samd7 is a cell type-specific PRC1 component essential for establishing retinal rod photoreceptor identity. [Proc Natl Acad Sci U S A. 2017]
Samd7 is a cell type-specific PRC1 component essential for establishing retinal rod photoreceptor identity.
Omori Y, Kubo S, Kon T, Furuhashi M, Narita H, Kominami T, Ueno A, Tsutsumi R, Chaya T, Yamamoto H, et al. Proc Natl Acad Sci U S A. 2017 Sep 26; 114(39):E8264-E8273. Epub 2017 Sep 12.

RefSeq mRNA
See reference mRNA sequence for the SAMD7 gene (NM_001304366.2).
RefSeq protein isoforms
See the other reference sequence protein isoform for the SAMD7 gene (NP_872416.1).

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Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

Coiled-coil domain containing 80 [Homo sapiens]
Coiled-coil domain containing 80 [Homo sapiens]
gi|109732525|gb|AAI16179.1|

Protein
zinc finger protein with KRAB and SCAN domains 4 isoform X5 [Homo sapiens]
zinc finger protein with KRAB and SCAN domains 4 isoform X5 [Homo sapiens]
gi|2217361388|ref|XP_047274709.1|

Protein

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