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Mouse Anti-OCA2 (AA 201-300) Recombinant Antibody (CBXO-0451) (CBMAB-O0236-CQ)

This product is a mouse antibody that recognizes OCA2 (AA 201-300). The antibody CBXO-0451 can be used for immunoassay techniques such as: ELISA.
See all OCA2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXO-0451
Antibody Isotype
IgG2a, Κ
Application
ELISA

Basic Information

Immunogen
Partial recombinant corresponding to aa201-300 from human OCA2 (AAH12097) with GST tag
Specificity
Human
Antibody Isotype
IgG2a, Κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.2
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 201-300

Target

Full Name
oculocutaneous albinism II
Introduction
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.
Entrez Gene ID
4948
UniProt ID
Q04671
Alternative Names
OCA2 Melanosomal Transmembrane Protein; Melanocyte-Specific Transporter Protein; Oculocutaneous Albinism II (Pink-Eye Dilution Homolog, Mouse); Pink-Eyed Dilution Protein Homolog; Eye Color 2 (Central Brown); Eye Color 3 (Brown); P-Protein; D15S12; P; Total Brown Iris Pigmentation; Hair Color 3 (Brown); P Protein
Function
Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color.
Biological Process
Cell population proliferationIEA:Ensembl
Eye pigment biosynthetic processManual Assertion Based On ExperimentTAS:ProtInc
Melanin biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central
Melanocyte differentiationManual Assertion Based On ExperimentIBA:GO_Central
Spermatid developmentIEA:Ensembl
Cellular Location
Melanosome membrane
Involvement in disease
Albinism, oculocutaneous, 2 (OCA2):
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.
Topology
Cytoplasmic: 1-179
Helical: 180-197
Extracellular: 198-330
Helical: 331-347
Cytoplasmic: 348-353
Helical: 354-370
Extracellular: 371-384
Helical: 385-401
Cytoplasmic: 402-423
Helical: 424-440
Extracellular: 441-513
Helical: 514-530
Cytoplasmic: 531-620
Helical: 621-637
Extracellular: 638-647
Helical: 648-664
Cytoplasmic: 665-679
Helical: 680-696
Extracellular: 697-720
Helical: 721-737
Cytoplasmic: 738-760
Helical: 761-777
Extracellular: 778-817
Helical: 818-834
Cytoplasmic: 835-838
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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