2024年12月25日 · OCA2 (OCA2 Melanosomal Transmembrane Protein) is a Protein Coding gene. Diseases associated with OCA2 include Albinism, Oculocutaneous, Type Ii and Skin/Hair/Eye Pigmentation, Variation In, 1 . Among its related pathways are Metabolism and Peptide chain elongation .

2024年6月26日 · OCA2, which is located at chromosome position 15q11.2-q12, contains 23 coding exons encoding a 110 kDa transmembrane protein, also known as the P protein, with 12 transmembrane helices.

OCA2 is physically located on the chromosome at position 15q11.2–q12 and contains 23 coding exons with 345 kb nucleotide sequences. This gene mediates a 110 kDa protein that encodes 838 amino acids and has 12 transmembrane helices .

2018年9月1日 · The OCA2 gene (MIM# 203200) encompasses 23 coding exons encoding a polypeptide product of ~110 kDa, with 12 transmembrane helices. The molecule belongs to the Na + /H + antiporter family and functions in maintaining the pH of melanosomes, resulting in the regulation of tyrosinase activity ( Gershoni-Baruch et al., 1994 ; Matsunaga et al., 1998 ...

Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink-eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domains an …

The OCA2 protein is a 110 kDa integral melanosomal protein with 12 predicted transmembrane domains [18, 20]. OCA2 protein is important for normal biogenesis of melanosomes [21, 22], and for normal processing and transport of melanosomal proteins such as …

2013年7月4日 · Oculocutaneous albinism type 2 (OCA2), caused by mutations of OCA2 gene, is an autosomal recessive disorder characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eyes. The OCA2 gene encodes instructions for making a protein called the P …

Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink-eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domains and is associated with melanosomal membranes.

1999年1月7日 · Mutations in the human P gene lead to oculocutaneous albinism type 2 (OCA2, MIM #203200), the most common type of albinism in humans. The P gene encodes a 110 kDa protein that is associated with melanosomal membranes and contains 12 potential membrane spanning domains.

2024年6月26日 · In this study, we analysed the effects of two mutations on OCA2 protein expression by constructing two expression vectors, pEGFP and phage, in vitro and found that the c.1079C > T (p.Ser360Phe) missense mutation increased OCA2 protein expression compared to that of the wild type, while the p.Ala366_Ala368del deletion mutation significantly ...