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

Name: Mouse Anti-OCA2 (AA 201-300) Recombinant Antibody (CBXO-0451)
SKU: CBMAB-O0236-CQ
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBXO-0451

Application

ELISA

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

More Infomation

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

Jiang, B., Zhang, H., Kan, Y., Gao, X., Du, Z., & Liu, Q. (2024). Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism. Molecular Genetics & Genomic Medicine, 12(1), e2297.

Wiriyasermkul, P., Moriyama, S., & Nagamori, S. (2020). Membrane transport proteins in melanosomes: Regulation of ions for pigmentation. Biochimica et Biophysica Acta (BBA)-Biomembranes, 1862(12), 183318.

Peterson, K. A., Neuffer, S., Bean, M. E., New, L., Coffin, A. B., & Cooper, C. D. (2019). Melanosome maturation proteins Oca2, Mitfa and Vps11 are differentially required for cisplatin resistance in zebrafish melanocytes. Experimental dermatology, 28(7), 795-800.

Kratochwil, C. F., Urban, S., & Meyer, A. (2019). Genome of the Malawi golden cichlid fish (Melanochromis auratus) reveals exon loss of oca2 in an amelanistic morph. Pigment Cell & Melanoma Research, 32(5), 719-723.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

For research use only. Not intended for any clinical use.

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