Post # 1500, Gene # 1500

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Gene 1500: CTNND1
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I'm facing my mid-term Genetics and Evolution course exam next week, 

thus I naturally thought it fitting to introduce gene number 1500, CTNND1, in 

this 1500th The Ridou Report blog post.

Here's an example of a question from one of the early weekly quizzes for the 

course:

Beta-thalassemia is a genetic disorder that prevents an individual from 

producing β hemoglobin, a protein that is essential for carrying oxygen in the 

blood. It is inherited by incomplete dominance. Normal individuals have no 

copies of the β-thalassemia allele (so, genotype BB), individuals with β-

thalassemia minor have one normal β hemoglobin allele and one non-functional 

allele (Bb), and individuals with β-thalassemia major have two non-functional 

alleles (bb). 

Sickle-cell anemia is caused by a substitution that results in a non-functional β 

hemoglobin chain. This changes the shape of red blood cells, causing them to 

be sickle-shaped. It too is inherited by incomplete dominance. Normal 

individuals have two normal copies of the allele (SS), individuals with sickle-cell 

trait have only one normal copy (Ss), and individuals with sickle-cell anemia 

have two sickle-cell copies (ss). 

You are counseling a couple that is considering having children. You know the 

prospective mother has sickle cell trait but not any form of β-thalassemia (BB 

Ss) and the prospective father has β-thalassemia minor but no sickle cell trait 

or anemia (Bb SS). Both of these disorders have minimal symptoms alone, but 

could completely inhibit the production of β hemoglobin if an individual was 

heterozygous for both traits (Bb Ss). The traits are also completely unlinked 

and independent from one another. What is the chance of their first child being 

unable to synthesize β hemoglobin? 

GENE 1500:

(from http://www.ncbi.nlm.nih.gov/gene/1500)

CTNND1 catenin (cadherin-associated protein), delta 1 [ Homo sapiens ]

Gene ID: 1500, updated on 7-Feb-2013

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Summary

Official Symbol

CTNND1provided by HGNC

Official Full Name

catenin (cadherin-associated protein), delta 1provided by HGNC

Primary source

HGNC:2515

See related

Ensembl:ENSG00000198561; HPRD:03026; MIM:601045; Vega:OTTHUMG00000167272

Gene type

protein coding

RefSeq status

REVIEWED

Organism

Homo sapiens

Lineage

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as

CAS; p120; CTNND; P120CAS; P120CTN; p120(CAS); p120(CTN)

Summary

This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]

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Genomic context

Location

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11q11

Sequence

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Chromosome: 11; NC_000011.9 (57529234..57586652)

See CTNND1 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9

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Gene 1500: CTNND1
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And no, there won't be post # 20000 in the future (there are about 20,000 

genes in human genome).