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3M Syndrome
What is 3M Syndrome?
Normal Function
3M is am severe pre & postnatal growth retardation, which result in very unusual Height & body structure.That is caused by the mutated gene called CUL7
Provides instructions for making a protein called cullin-7( plays a role in the cell machinery that breaks down degrades) unwanted proteins, called the Ubiquitin-proteasome system.
Location
Way Inherited
The way the children got this syndrome is through there parents having this trait. 80-90% due to genetic heterogeneity
The Gene for 3m syndrome is located on the short arm of chromosome 6 with base pairs 43,037,616, to 43,053,949
3M Syndrome
Physical Effects
People with 3M Syndrome could be born with Broad Neck, Triangle shaped face,unusual facial features, and Dwarfism.
History
Mutations in the CUL7 gene causes
3m syndrome. CUL7 gene provides instructions for making a protein called cullin-7. Mutations in CUL7 disrupt the ability of the cullin 7 protein to bring together the components of the E3.
Health conditions due to mutation
At least 25 mutations in the CUL7 gene have been identified in people with 3m syndrome. Some of the mutations substitute one protein building block ( amino acid ) for another amino acid in the cullin-7 gene. Others result in a cullin-7 protein is abnormally short and nonfunctional.
In Depth Detail
Websites for Info on 3M syndrome
The protein encoded by this gene is a component of an E3 ubiquitin protein ligase complex. The encoded protein interacts with TP53, CUL9,and FBXW8 proteins.
http://www.rarediseases.org
http://endocrinologyJournals.org
And many more for Families dealing with 3M Syndrome.
Exons/Introns
The length of CUL7 gene is 16,334. There are 26 ex trons and 7 In trons.
Article
(Ital J Pediatr, 2013 Mar 21 39:21) Title is 3-M Syndrome associated with growth hormone deficiency: 18 years fall-up of a patient. 3-M Syndrome is a rare autosomal recessive disorder. mutations in CUL7, OBSL1, CCD8 gene could cause 3-M Syndrome. An Italian boy was examined from the time he was born til the time he was 18 years old. He was born full term, but had broad,fleshy nose and anteverted nostrils and many more side affects. I was known he had 3-M Syndrome b/c of the deletion in Exon 18 of the CUL7 gene.