RecName: Full=Proline-rich protein 12

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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. [Genet Med. 2021]
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, et al. Genet Med. 2021 Jul; 23(7):1234-1245. Epub 2021 Apr 6.
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. [Clin Genet. 2021]
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM, University of Washington Center for Mendelian Genomics, Semina EV. Clin Genet. 2021 Mar; 99(3):437-442. Epub 2020 Dec 16.
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. [Hum Genet. 2018]
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
Leduc MS, Mcguire M, Madan-Khetarpal S, Ortiz D, Hayflick S, Keller K, Eng CM, Yang Y, Bi W. Hum Genet. 2018 Mar; 137(3):257-264. Epub 2018 Mar 19.

RefSeq genomic sequence
See the genomic reference sequence for the PRR12 gene (NG_051202.1).
RefSeq protein
See the reference protein sequence for proline-rich protein 12 (NP_065770.1).

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Q9ULL5 [Domain Mapping of Disease Mut...]
Q9ULL5
Domain Mapping of Disease Mutations

RecName: Full=Proline-rich protein 12
RecName: Full=Proline-rich protein 12
gi|1573758317|sp|Q9ULL5.3|PRR12_HUM

Protein
Homo sapiens membrane-bound transcription factor peptidase, site 2, mRNA (cDNA c...
Homo sapiens membrane-bound transcription factor peptidase, site 2, mRNA (cDNA clone IMAGE:5261621), with apparent retained intron
gi|34190870|gb|BC036465.2|

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Protein