Noggin

Gene Synonyms:

Protein Names:

Organism:

Homo sapiens (Human)

Mass (kDa):

25774

Length (aa):

232

Sequence:

MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKDLNETLLRSLLGGHYDPGFMATSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEIKGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYAWNDLGSRFWPRYVKVGSCFSKRSCSVPEGMVCKPSKSVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSC

Proteomics (Proteome ID):

Noggin

Proteomics (Chromosome):

UP000005640

Mass Spectrometry:

N/A

Function [CC]:

Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 and, probably, GDF6 (PubMed:21976273, PubMed:26643732). {ECO:0000269|PubMed:12478285, ECO:0000269|PubMed:21976273, ECO:0000269|PubMed:26643732}.

Metal Binding:

N/A

Site:

N/A

Tissue Specificity:

N/A

Disease:

Symphalangism, proximal 1A (SYM1A) [MIM:185800]: A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. {ECO:0000269|PubMed:10080184, ECO:0000269|PubMed:11846737, ECO:0000269|PubMed:11857750, ECO:0000269|PubMed:15770128}. Note=The disease is caused by mutations affecting the gene represented in this entry.; Multiple synostoses syndrome 1 (SYNS1) [MIM:186500]: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. {ECO:0000269|PubMed:10080184, ECO:0000269|PubMed:20503332}. Note=The disease is caused by mutations affecting the gene represented in this entry.; Tarsal-carpal coalition syndrome (TCC) [MIM:186570]: Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families. {ECO:0000269|PubMed:11545688}. Note=The disease is caused by mutations affecting the gene represented in this entry.; Stapes ankylosis with broad thumb and toes (SABTS) [MIM:184460]: An autosomal dominant disorder characterized by hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism. {ECO:0000269|PubMed:12089654}. Note=The disease is caused by mutations affecting the gene represented in this entry.; Brachydactyly B2 (BDB2) [MIM:611377]: A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. {ECO:0000269|PubMed:17668388}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis:

N/A

Name:

Noggin

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.