HOXC13
entrez
3229
canonical
uniprot
P31276
canonical
ensembl
ENSG00000123364
resolver
ensp
ENSP00000243056
resolver
enst
ENST00000243056
resolver
genesymbol
HOXC13
resolver
genesymbol_syn
HOX3G
resolver
hgnc
HGNC:5125
resolver
uniprot
Q5BL02
resolver
uniprot
Q96J32
resolver
uniprot
Q9NR24
resolver
uniprot
Q9NYD5
resolver
uniprot_entry
HXC13_HUMAN
resolver
uniprot_sec
Q5BL02
resolver
uniprot_sec
Q96J32
resolver
uniprot_sec
Q9NR24
resolver
uniprot_sec
Q9NYD5
resolver
amino_acid_sequence
MTTSLLLHPRWPESLMYVYEDSAAESGIGGGGGGGGGGTGGAGGGCSGASPGKAPSMDGLGSSCPASHCRDLLPHPVLGRPPAPLGAPQGAVYTDIPAPEAARQCAPPPAPPTSSSATLGYGYPFGGSYYGCRLSHNVNLQQKPCAYHPGDKYPEPSGALPGDDLSSRAKEFAFYPSFASSYQAMPGYLDVSVVPGISGHPEPRHDALIPVEGYQHWALSNGWDSQVYCSKEQSQSAHLWKSPFPDVVPLQPEVSSYRRGRKKRVPYTKVQLKELEKEYAASKFITKEKRRRISATTNLSERQVTIWFQNRRVKEKKVVSKSKAPHLHST
uniprot
proteins
disease_involvement
DISEASE: Ectodermal dysplasia 9, hair/nail type (ECTD9) [MIM:614931]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia). {ECO:0000269|PubMed:23063621, ECO:0000269|PubMed:28297138}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
35379
uniprot
proteins
protein_family
Abd-B homeobox family
uniprot
proteins
pubmed
10835276
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23063621
uniprot
proteins
pubmed
2574852
uniprot
proteins
pubmed
28297138
uniprot
proteins
sequence_length
330
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins