29 Questions
What does the ATP7A gene provide instructions for making?
A protein important for regulating copper levels in the body
How are autosomal recessive forms of cutis laxa generally compared to the autosomal dominant form?
They tend to be more severe
What is the X-linked form of cutis laxa often referred to as?
Occipital horn syndrome
Which gene is associated with causing Supravalvular aortic stenosis (SVAS)?
ELN gene
What effect can aortic narrowing, caused by SVAS, have on the heart?
Lead to shortness of breath, chest pain, and heart failure
Which condition is considered a mild type of Menkes syndrome?
Occipital horn syndrome
Which pigment found in the skin resembles melanin but is diffusely present throughout the epidermis?
Melanoid
What polymer is eumelanin composed of?
Dihydroxyindole carboxylic acids and benzothiazine units
Which pigment is largely responsible for red hair and freckles?
Pheomelanin
What is the precursor of melanin synthesis?
L-tyrosine
Which organ of the human body is affected by melanin synthesis?
Skin
What is the characteristic color of Hemoglobin?
Purple
What is the half-life of elastin in the human body?
74 years
How many tropoelastin gene(s) exist in humans?
One
What enzyme catalyzes the reaction of linking soluble tropoelastin protein molecules to form elastin?
Lysyl oxidase
Which disease is characterized by loose, sagging skin, aneurysm risk, and emphysema?
Cutis laxa
What is the main role of lysyl oxidase in elastin metabolism?
Catalyzing cross-linking in elastin formation
What type of genetic pattern is associated with Williams syndrome?
Autosomal dominant
Which gene is associated with Williams syndrome?
ELN
Why do people with Williams syndrome have connective tissue abnormalities?
Loss of ELN gene
Which gene is responsible for encoding fibrillin-1 protein in Marfan syndrome?
FBN1
What is the main role of the Fibrillin-1 protein in Marfan syndrome?
Proper formation of extracellular matrix
Which genetic disorder is characterized by being unusually tall with long limbs and thin fingers?
Marfan syndrome
What is the likelihood that the replacement base in the excision repair process is the same as the base that was removed?
1 in 4
How does excision repair impact the risk of developing skin cancer?
Introduces DNA mutations
What role does melanin play in protecting the skin from UV rays?
Absorbing UV rays
What is the photochemical process that converts UV-photon energy into heat called?
Internal conversion
What harmful outcomes can result if UV-photon energy is not converted into heat?
Generation of free radicals
How does natural skin color impact photoprotection?
Darker skin provides more photoprotection due to increased melanin
Learn about the metabolism and composition of elastin, the longest lasting protein in the human body. Discover interesting facts about elastin production and its composition.
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