HuLPr23899

Uniprot ID

GDF6_HUMAN

Uniprot Acc

Q6KF10;Q6PI58;

Protein name

Growth/differentiation factor 6

Comment

FUNCTION:Required for normal formation of bones and joints in the limbs, skull, and axial skeleton. Play a key role in establishing boundaries between skeletal elements during development (By similarity).||SUBUNIT:Homodimer; disulfide-linked (By similarity).||SUBCELLULAR LOCATION:Secreted (Probable).||DISEASE:Defects in GDF6 are the cause of Klippel-Feil syndrome type 1 (KFS1) [MIM:118100]. A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a well- known feature of KFS and may be of sensorineural, conductive, or mixed type.||DISEASE:Note=A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3).||DISEASE:Defects in GDF6 are the cause of microphthalmia isolated type 4 (MCOP4)

Subcellular localization

Secreted(Probable).

Gene name

growth differentiation factor 6

Protein sequence

MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGST KGMRSRKEGKMQRAPRDSDAGREGQEPQPRPQDEPRAQQ PRAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFF QSSKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSD KEELVGAELRLFRQAPSAPWGPPAGPLHVQLFPCLSPLL LDARTLDPQGAPPAGWEVFDVWQGLRHQPWKQLCLELRA AWGELDAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQE RALLVVFTRSQRKNLFAEMREQLGSAEAAGPGAGAEGSW PPPSGAPDARPWLPSPGRRRRRTAFASRHGKRHGKKSRL RCSKKPLHVNFKELGWDDWIIAPLEYEAYHCEGVCDFPL RSHLEPTNHAIIQTLMNSMDPGSTPPSCCVPTKLTPISI LYIDAGNNVVYKQYEDMVVESCGCR

Database cross reference

RefSeq Protein accession:NP_001001557
RefSeq Protein gi:48475062

HLPP validation

Yes/No

Yes

Project name

Human Liver Organelles;

GO:0005615;C:extracellular space;IEA:UniProtKB-KW.

GO-F

GO:0005125;F:cytokine activity;IEA:UniProtKB-KW. GO:0008083;F:growth factor activity;IEA:UniProtKB-KW.

GO-P

GO:0032924;P:activin receptor signaling pathway;IDA:BHF-UCL. GO:0030509;P:BMP signaling pathway;IDA:BHF-UCL. GO:0040007;P:growth;IEA:InterPro. GO:0060389;P:pathway-restricted SMAD protein phosphorylation;IDA:BHF-UCL. GO:0010862;P:positive regulation of

TGF-