Anti-OCA2 monoclonal antibody (DCABH-12656) Made to order

Rabbit anti-Human OCA2 monoclonal antibody for WB, ELISA Datasheet

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Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
A synthetic peptide of human OCA2 is used for rabbit immunization.
Conjugate
Unconjugated

Target


Alternative Names
OCA2; oculocutaneous albinism II; D15S12, EYCL2, EYCL3, eye color 2 (central brown) , eye color 3 (brown) , oculocutaneous albinism II (pink eye dilution (murine) homolog) , oculocutaneous albinism II (pink eye dilution homolog, mouse) , P; P protein; BEY
Entrez Gene ID
UniProt ID

Product Background


Gene summary
OCA2 (OCA2 Melanosomal Transmembrane Protein) is a Protein Coding gene. Diseases associated with OCA2 include albinism, oculocutaneous, type ii and epilepsy, idiopathic generalized, suscpetibility to, 12. GO annotations related to this gene include transporter activity and L-tyrosine transmembrane transporter activity. This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oCulocutaneous albinism. Alternative splicing results in multiple transcript variants.
Antigen Description
This gene encodes the human homologue of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Mutations in this gene result in type 2 oCulocutaneous albinism. Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, brown OCA, has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. Note=The disease is caused by mutations affecting the gene represented in this entry. P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (OCA2) gene. The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Certain mutations in OCA2 result in type 2 oCulocutaneous albinism. OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. OCA2 provides instructions for making the protein called P protein which is located in melanocytes which are specialized cells that produce melanin. Melanin is responsible for giving color to the skin, hair, and eyes. Moreover, melanin is found in the light-sensitive tissue of the retina of the eye which plays a role in normal vision.
Pathway
glycine cleavage complex, organism-specific biosystem.

Citations


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References


Toyofuku, K; Valencia, JC; et al. The etiology of oculocutaneous albinism (OCA) type II: The pink protein modulates the processing and transport of tyrosinase. PIGMENT CELL RESEARCH 15:217-224(2002).
Fitter, S; Seldin, MF; et al. Characterisation of the mouse homologue of CD151 (PETA-3/SFA-1); genomic structure, chromosomal localisation and identification of 2 novel splice forms. BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION 1398:75-85(1998).

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