ANOP3; MCOPS3

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

The antibody detects endogenous levels of total SOX2 protein.

Antigen Affinity Purification

Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.

2.5 mg/ml (lot specific)

Store at -20 degree C

Small volumes of anti-SOX2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation.

Total protein Ab

Western Blot (WB), Immunohistochemistry (IHC)

Western Blot: 1:500-1:2000
Immunohistochemistry: 1:25-1:100

Gel: 8%SDS-PAGE Lysate: 40 μ g Lane 1-2: 231 cells, hela cells Primary antibody: 1/300 dilution Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution Exposure time: 20 seconds

45,210 Da

SRY-box 3

transcription factor SOX-3

Transcription factor SOX-3

SOX3_HUMAN

SOX3: Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells. Defects in SOX3 are a cause of panhypopituitarism X- linked (PHPX). Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. Defects in SOX3 are the cause of mental retardation X- linked with isolated growth hormone deficiency (MRXGH). Defects in SOX3 are the cause of 46,XX sex reversal type 3 (SRXX3). A condition in which male gonads develop in a genetic female (female to male sex reversal). Copy number variations (CNV) encompassing or in close proximity to SOX3 are responsible for XX male reversal. These variations include two duplications of approximately 123 kb and 85 kb, the former of which spans the entire SOX3 gene; a 343 kb deletion immediately upstream of SOX3 that is probably responsible of altered regulation (and not increased dosage) of SOX3; a large (approximately 6 Mb) duplication that encompasses SOX3 and at least 18 additional distally located genes. Its proximal breakpoint falls within the SOX3 regulatory region. This large rearrangement has been found in a patient with XX male reversal and a complex phenotype that also includes a scrotal hypoplasia, microcephaly, developmental delay, and growth retardation.

Protein type: DNA-binding; Nuclear receptor co-regulator; Transcription factor

Chromosomal Location of Human Ortholog: Xq27.1

Cellular Component: nucleoplasm

Molecular Function: DNA binding

Biological Process: central nervous system development; hypothalamus development; negative regulation of neuron differentiation; pituitary gland development; sensory organ development; sex determination

Disease: Mental Retardation, X-linked, With Panhypopituitarism; Panhypopituitarism, X-linked

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