GFER

Gene Synonyms:

Protein Names:

Organism:

Homo sapiens (Human)

Mass (kDa):

23449

Length (aa):

205

Sequence:

MAAPGERGRFHGGNLFFLPGGARSEMMDDLATDARGRGAGRRDAAASASTPAQAPTSDSPVAEDASRRRPCRACVDFKTWMRTQQKRDTKFREDCPPDREELGRHSWAVLHTLAAYYPDLPTPEQQQDMAQFIHLFSKFYPCEECAEDLRKRLCRNHPDTRTRACFTQWLCHLHNEVNRKLGKPDFDCSKVDERWRDGWKDGSCD

Proteomics (Proteome ID):

FAD-linked sulfhydryl oxidase ALR (EC 1.8.3.2) (Augmenter of liver regeneration) (hERV1) (Hepatopoietin)

Proteomics (Chromosome):

UP000005640

Mass Spectrometry:

N/A

Function [CC]:

Isoform 1: FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with GFER/ERV1, resulting in regeneration of the essential disulfide bonds in CHCHD4/MIA40, while GFER/ERV1 becomes re-oxidized by donating electrons to cytochrome c or molecular oxygen. {ECO:0000269|PubMed:19397338, ECO:0000269|PubMed:20593814, ECO:0000269|PubMed:21383138, ECO:0000269|PubMed:22224850, ECO:0000269|PubMed:23186364, ECO:0000269|PubMed:23676665}.; Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration.

Metal Binding:

N/A

Site:

N/A

Tissue Specificity:

Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle. {ECO:0000269|PubMed:19409522}.

Disease:

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD) [MIM:613076]: A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay. {ECO:0000269|PubMed:19409522, ECO:0000269|PubMed:20593814}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis:

N/A

Name:

FAD-linked sulfhydryl oxidase ALR (EC 1.8.3.2) (Augmenter of liver regeneration) (hERV1) (Hepatopoietin)

Class:

Subcategory:

Recombinant

Source:

Species:

Human

Amino Acid Sequence:

Tag:

Format:

Lyophilized

Formulation:

Sterile-filtered colorless solution

Formulation Concentration:

1mg/ml

Buffer Volume:

Standard

Buffer Solution:

PBS

pH:

7.4-7.5

NaCl:

Null

EDTA:

Null

Purity:

> 98%

Determined:

SDS-PAGE

Stained:

Inquire

Validated:

RP-HPLC

Storage:

-20°C

Stability:

This bioreagent is stable at 4°C (short-term) and -70°C(long-term). After reconstitution, sample may be stored at 4°C for 2-7 days and below -18°C for future use.

Preparation:

Reconstitute in sterile distilled H2O to no less than 100ug/ml; dilute reconstituted stock further in other aqueous solutions if needed. Please review COA for lot-specific instructions. Final measurements should be determined by the end-user for optimal performance.