Biology:MKRN3
From HandWiki
 Generic protein structure example |
Makorin ring finger protein 3 is a protein that in humans is encoded by the MKRN3 gene.[1]
Function
The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader–Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene.[citation needed]
References
Further reading
- "A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region". Hum. Mol. Genet. 8 (5): 783–93. 1999. doi:10.1093/hmg/8.5.783. PMID 10196367.
- "Central precocious puberty caused by mutations in the imprinted gene MKRN3". N. Engl. J. Med. 368 (26): 2467–75. 2013. doi:10.1056/NEJMoa1302160. PMID 23738509.
- "Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene". J. Clin. Endocrinol. Metab. 99 (4): E647–51. 2014. doi:10.1210/jc.2013-4084. PMID 24438377.
- "Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3". J. Clin. Endocrinol. Metab. 99 (6): E1097–103. 2014. doi:10.1210/jc.2013-3126. PMID 24628548.
- "MKRN3 mutations in familial central precocious puberty". Horm Res Paediatr 82 (2): 122–6. 2014. doi:10.1159/000362815. PMID 25011910.
- "A novel MKRN3 missense mutation causing familial precocious puberty". Hum. Reprod. 29 (12): 2838–43. 2014. doi:10.1093/humrep/deu256. PMID 25316453.
- "Circulating MKRN3 levels decline prior to pubertal onset and through puberty: a longitudinal study of healthy girls". J. Clin. Endocrinol. Metab. 100 (5): 1920–6. 2015. doi:10.1210/jc.2014-4462. PMID 25695892.
- "Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls". Horm. Metab. Res. 48 (2): 118–22. 2016. doi:10.1055/s-0035-1548938. PMID 25938887.
- "A new pathway in the control of the initiation of puberty: the MKRN3 gene". J. Mol. Endocrinol. 54 (3): R131–9. 2015. doi:10.1530/JME-14-0315. PMID 25957321.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 |
