Human oculocutaneous albinism II ELISA Kit | OCA2 elisa kit

Human P protein, OCA2 ELISA Kit

Cat. Num. AAA9339058

• Gene Names: OCA2; P; BEY; PED; BEY1; BEY2; BOCA; EYCL; HCL3; EYCL2; EYCL3; SHEP1; D15S12
• Reactivity: Human
• Synonyms: oculocutaneous albinism II; Human P protein; OCA2 ELISA Kit; Human P protein (OCA2) ELISA kit; BEY; BEY1; BEY2; BOCA; D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; eye color 2 (central brown) ; eye color 3 (brown) ; hair color 3 (brown) ; melanocyte-specific transporter protein; oculocutaneous al; OCA2 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 157266326
• NCBI GeneID: 4948
• NCBI Accession #: NP_000266.2
• NCBI GenBank Nucleotide #: NM_000275.2
• UniProt Accession #: Q04671; Q15211; Q15212; Q96EN1; Q9UMI5
• Molecular Weight: 92,850 Da
• NCBI Official Full Name: P protein isoform 1
• NCBI Official Synonym Full Names: oculocutaneous albinism II
• NCBI Official Symbol: OCA2
• NCBI Official Synonym Symbols: P; BEY; PED; BEY1; BEY2; BOCA; EYCL; HCL3; EYCL2; EYCL3; SHEP1; D15S12
• NCBI Protein Information: P protein; eye color 3 (brown); hair color 3 (brown); eye color 2 (central brown); total brown iris pigmentation; pink-eyed dilution protein homolog; melanocyte-specific transporter protein; oculocutaneous albinism II (pink-eye dilution homolog, mouse)
• UniProt Protein Name: P protein
• Protein Family: P protein
• UniProt Gene Name: OCA2
• UniProt Synonym Gene Names: D15S12; P
• UniProt Entry Name: P_HUMAN

NCBI Description

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. [provided by RefSeq, Jul 2014]

Uniprot Description

OCA2: a transporer of tyrosine, a precursor for melanin synthesis, within melanocytes. Regulates the pH of melanosomes and melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the postranslational 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. Belongs to the SLC13A transporter family.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Transporter

Chromosomal Location of Human Ortholog: 15q

Cellular Component: endoplasmic reticulum membrane; lysosomal membrane; cytoplasm; melanosome membrane; integral to membrane; endosome membrane

Molecular Function: protein binding; transporter activity; L-tyrosine transmembrane transporter activity

Biological Process: melanin biosynthetic process; cell proliferation; tyrosine transport; melanocyte differentiation; eye pigment biosynthetic process; transmembrane transport; spermatid development

Disease: Albinism, Oculocutaneous, Type Ii; Skin/hair/eye Pigmentation, Variation In, 1