
Albinism | The Online Metabolic and Molecular Bases of Inherited ...
Tyrosinase is the critical enzyme to melanin production by virtue of its catalytic function in the hydroxylation of tyrosine, the rate-limiting reaction in the melanin biosynthetic pathway.
Molecular basis of albinism: mutations and polymorphisms of ... - PubMed
Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye (oculocutaneous albinism [OCA]), or primarily in the eye (ocular albinism [OA]), results from mutations in genes …
Albinism - an overview | ScienceDirect Topics
Albinism is a multi-system inherited disorder that disrupts melanin biosynthesis and/or trafficking and presents with hypopigmentation of the skin, hair and eyes. Subtypes are classified …
Molecular Biology of Albinism - ScienceDirect
2018年1月1日 · Albinism results when a gene encoding one of these proteins is mutated. The most common forms of albinism are nonsyndromic oculocutaneous albinism (OCA) types 1–4, …
The structure and function of the mouse tyrosinase locus
2020年10月23日 · The mouse Tyr locus emerges not only as a fundamental gene encoding the rate-limiting enzyme in the melanin biosynthesis pathway, but also as a paradigm for …
Insights into the physiological, molecular, and genetic regulators …
In the flavonoid biosynthesis pathway, our study identified three coregulated metabolites, namely, pme1201 (Phloretin), Lmsn003297 (3,4,2′,4′,6′-Pentahydroxychalcone-4′-O-glucoside), and …
PhenylalaninePathway - WRUV
The series of chemical reactions used by cells to synthesize biological chemicals (called a biosynthetic pathway) are exactly the same reactions used by organic chemists in a …
Transcriptomic analysis reveals mechanism of light-sensitive albinism …
2020年5月14日 · Some photosynthesis-related genes and pathways have been shown to be involved in leaf albinism in tea plant, including pigmentation synthesis, protein processing, …
Albinism: Background, Pathophysiology, Epidemiology - Medscape
2024年1月23日 · Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital reduction or absence of melanin pigment. Albinism …
Methylome and transcriptome analyses of three different degrees …
2022年4月19日 · In this research, we analysed the different degrees of albinism in apple ( Malus domestica) seedlings, including white-leaf mutants (WM), piebald leaf mutants (PM), light …