KRT75 - keratin 75 Gene

Homo sapiens

Also known as K75; PFB; K6HF; KB18; CK-75; hK6hf

Gene ID: 9119 | Gene type: protein coding

About KRT75

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:52,424,070-52,434,371 (from NCBI)

This gene has 1 transcript (splice variant), 129 orthologues, 68 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

Summary

This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]

KRT75 Products(1)

mRNA	Protein	Name
NM_004693.3	NP_004684.2	keratin, type II cytoskeletal 75

KRT75 Protein Structure

Filament

0
100
200
300
400
500
551 a.a.

Protein Preferred Names

Protein Names

keratin, type II cytoskeletal 75

cytokeratin type II

Related Diseases

Diseases

Alias

Pseudofolliculitis Barbae

Pili Incarnati	PFB
Ingrown Hairs	Pseudofolliculitis Barbae, Susceptibility To

Loose Anagen Hair Syndrome

Loose Anagen Syndrome

LAHS

Cerebellar Liponeurocytoma

Lipomatous Medulloblastoma

Central Neurocytoma

Myxopapillary Ependymoma

Ependymoma Myxopapillary

Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse

PPKNEFD	Focal Or Diffuse Nonepidermolytic Palmoplantar Keratoderma
Autosomal Dominant Focal Non-Epidermolytic Palmoplantar Keratoderma With Plantar Blistering	Palmoplantar Keratoderma, Non-Epidermolytic, Focal Or Diffuse
Nonepidermolytic Focal Or Diffuse Palmoplantar Keratoderma	Keratoderma, Palmoplantar, Nonepidermolytic, Focal Or Diffuse

Posterior Fossa Ependymoma

Pachyonychia Congenita 1

Pachyonychia Congenita	Jadassohn-Lewandowsky Syndrome
Pachyonychia Congenita Syndrome	PC1
Pachyonychia Congenita, Jadassohn-Lewandowsky Type	Congenital Pachyonychia
Pachyonychia Congenita, Type 1	Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
Jadassohn-Lewandowsky Syndrome, Formerly	Jackson-Lawler Type Pachyonychia Congenita
Pachyonychia Congenita Type 1	Jackson-Lawler Syndrome
Jadassohn-Lewandowski Syndrome	Pc
Pachyonychia Congenita Jackson-Lawler Type	Pachyonychia Congenita Jadassohn-Lewandowsky Type
Pachyonychia Congenita Jackson Lawler Type	Pc-1
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita, Type 2

Telogen Effluvium

Supratentorial Ependymoma

Childhood Ependymoma

Monilethrix

Beaded Hair	MNLIX
Nodose Hair	Moniliform Hair Syndrome

Solitary Fibrous Tumor/Hemangiopericytoma

Sft/Hpc

Lipodystrophy, Congenital Generalized, Type 2

Congenital Generalized Lipodystrophy Type 2	CGL2
Berardinelli-Seip Congenital Lipodystrophy Type 2	Berardinelli-Seip Syndrome
Brunzell Syndrome Bscl2-Related	Total Lipodystrophy And Acromegaloid Gigantism
Berardinelli-Seip Congenital Lipodystrophy, Type 2	Seip Syndrome
Berardinelli Syndrome	Lipodystrophy, Total, And Acromegaloid Gigantism
Lipoatrophic Diabetes, Congenital	Lipodystrophy, Berardinelli-Seip Congenital, Type 2
Brunzell Syndrome, Bscl2-Related	Congenital Lipoatrophic Diabetes
Congenital Generalized Lipodystrophy 2	Lipoatrophic Diabetes
Lipodystrophy Berardinelli Type	Familial Generalized Lipodystrophy
Lipoatrophic Diabetes Mellitus	Familial Partial Lipodystrophy, Type 2

Familial Woolly Hair Syndrome

Wooly Hair	Familial Wooly Hair Syndrome
Hereditary Woolly Hair Syndrome	Hereditary Wooly Hair Syndrome
Woolly Hair	Syndrome With Woolly Hair
Wooly Hair Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07463	KRT75 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KRT75	VGNC	VGNC:30739
Canis familiaris	KRT75	VGNC	VGNC:56636
Rattus norvegicus	KRT75	RGD	RGD:1359576
Macaca mulatta	KRT75	VGNC	VGNC:74113
Mus musculus	KRT75	MGD	MGI:1923500

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