Recombinant Human KIAA1279 Protein (His & GST Tag)

Specifications

Catalog number

PKSH030514

Size / count

100 µg

Dry ice

No

Hazardous

No

Discontinued

No

Background

KIFBP (Kinesin Family Binding Protein, also known as KIAA1279 and KIF1BP) is a Protein Coding gene. This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratricopeptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating the transport of the mitochondria. Homozygous nonsense mutations in KIAA1279 at 1q22.1, encoding a protein with two tetratricopeptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of KIAA1279 in both enteric and central nervous system development. KIAA1279 is widely expressed in the brain, testis, and other tissues. Diseases associated with KIFBP include Goldberg-Shprintzen Syndrome and Shprintzen-Goldberg Craniosynostosis Syndrome.

Synonyms

KBP; KIAA1279; TTC20

UniProt

Q96EK5

Accession Number

Q96EK5

Expression System

Baculovirus-Insect Cells

Tag

N-His-GST

Sequence

Met 1-Thr621

Field of Research

Signal Transduction; Tags & Cell Markers; Cell biology; Cancer; epigenetics and nuclear signal; metabolism

Endotoxin

< 1.0 EU per μg of the protein as determined by the LAL method.

Purity

> 90 % as determined by reducing SDS-PAGE.

Bioactivity

Not validated for activity

Reconstitution

Please refer to the printed manual for detailed information.

Shipping Conditions

This product is provided as lyophilized powder which is shipped with ice packs.

Storage Conditions

Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.

Calculated Molecular Weight

99.6 kDa

Observed Molecular Weight

92-102 kDa

Species

Human