TCPR2 rabbit pAb

CAT: 0855-ES12769-01Size: 50 µLDry Ice: NoHazardous: No

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CAT#:0855-ES12769-01Size:50 µL

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Background

The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP) . HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Description

The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015],

UniProt

O15040

Swiss Prot

O15040

Reactivity

Human; Rat; Mouse

Immunogen

Synthesized peptide derived from human TCPR2 AA range: 598-648

Target

TCPR2

Clonality

Polyclonal

Source

Rabbit

Applications

Concentration

1 mg/ml

Dilution

WB 1:500-2000

Buffer

-20°C/1 year

Storage Conditions

-20°C/1 year

Fragment

IgG

Gene ID (Human)

9895

UniProtKB · O15040

Tectonin beta-propeller repeat-containing protein 2

TCPR2_HUMAN · Homo sapiens

View on UniProt ↗

Primary accession: O15040
Review status: UniProtKB reviewed (Swiss-Prot)
Gene: TECPR2
Protein existence: 1: Evidence at protein level
Organism: Homo sapiens (Human)
Taxonomy ID: 9606
Alternative names: —
EC number: —
Processing: —
Secondary accessions: A5PKY3, A6NFY9, A7E2X3, H0YMM9, Q9UEG6

Protein keywords

Coding sequence diversity

Alternative splicing

Biological process

Autophagy

Disease

Hereditary spastic paraplegiaNeurodegenerationNeuropathy

Technical term

Proteomics identificationReference proteome

Domain

RepeatWD repeat

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