This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system.
Pathology
germline mutations in Bosley-Salih-Alorainy syndrome (BSAS) (MIM.601536) Athabaskan brainstem dysgenesis syndrome (MIM.601536)
homozygous truncating mutations in HOXA1 result in phenotype including horizontal gaze abnormalities, deafness, (...)
Home > Keywords > Proteins > Mutated in human diseases
Mutated in human diseases
Articles
-
HOXA1
6 October 2005 -
APP
26 November 2003amyloid beta A4 precursor protein
-
MAPT
17 October 2003tau protein, TAU
Definition: Tau or MAPT is a microtubule-associated protein (MAPs) expressed in neurons that stabilizes microtubules in the axon. Six isoforms, containing either three or four microtubule-binding domains (3R or 4R tau), are expressed in the adult human brain.
Images
globose tangles in progressive supranuclear palsy (PSP) case (substantia nigra ). Immunohistochemistry by tau protein antibody. https://twitter.com/Meggenwalsh/status/766989000150253568
The (...) -
ZFHX1B
6 October 2003Smad-intercating protein 1; SMADIP1; SIP1; zinc finger homeo box 1B
-
SOD1
23 September 2003cytosolic Cu/Zn superoxide dismutase
-
SOX10
9 June 2003Location: 22q13. SRY-BOX 10, SRY-RELATED HMG-BOX GENE 10; SRY-related HMG-box 10 (SOX10) protein PO
Definition: SOX10 is a transcription factor known to be crucial in the specification of the neural crest and maintenance of Schwann cells and melanocytes. It is expressed in nuclei of melanocytes and breast myoepithelial cells .
Images
SOX10 in melanoma https://twitter.com/LisaRooperMD/status/968862378799632385
SOX-10 NEGATIVE in basal cell carcinoma / BCC. The few positive cells (...) -
ATM
28 October 2003ataxia-telangiectasia mutated
-
SLC2A1
9 June 2003GLUT1
-
RAB27A
14 October 2003RAB27A codes for a small GTPase.
Pathology
germline RAB27A mutations in Griscelli disease (#12058346#)
References
Hong W. Cytotoxic T lymphocyte exocytosis: bring on the SNAREs! Trends Cell Biol. 2005 Dec;15(12):644-50. PMID: #16260137# -
ABCB4
4 June 2003Canalicular phospholipid transporter ABCB4, MDR3