KRT71 - keratin 71 Gene

Homo sapiens

Also known as HYPT13; K6IRS1; KRT6IRS; KRT6IRS1

Gene ID: 112802 | Gene type: protein coding

About KRT71

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:52,543,909-52,553,145 (from NCBI)

This gene has 1 transcript (splice variant), 79 orthologues, 68 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

KRT71 Products(1)

mRNA	Protein	Name
NM_033448.3	NP_258259.1	keratin, type II cytoskeletal 71

KRT71 Protein Structure

Filament

0
100
200
300
400
523 a.a.

Protein Preferred Names

Protein Names

keratin, type II cytoskeletal 71

CK-71

Related Diseases

Diseases

Alias

Hypotrichosis 13

HYPT13	Hypotrichosis With Woolly Hair
Hypotrichosis, Type 13

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

Hypotrichosis

Woolly Hair, Autosomal Dominant

Autosomal Dominant Woolly Hair	ADWH
Woolly Hair Autosomal Dominant

T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy

Winged Helix Deficiency	Alymphoid Cystic Thymic Dysgenesis
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome	Pignata Guarino Syndrome
TIDAND	T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy
Congenital Alopecia And Nail Dystrophy Associated With Severe Functional T-Cell Immunodeficiency	Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Foxn1 Deficiency	Nude/Scid
Nude/Severe Combined Immunodeficiency	Scid Due To Foxn1 Deficiency
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy

Hypotrichosis 3

HYPT3	Hypotrichosis Simplex Of The Scalp 2
Htss2	Hypotrichosis, Type 3

Nail Disorder, Nonsyndromic Congenital, 4

Anonychia Congenita	Anonychia
Hyponychia Congenita	NDNC4
Anonychia/Hyponychia Congenita	Nonsyndromic Congenital Nail Disorder 4
Isolated Congenital Anonychia	Anonychia Congenita Totalis
Anonychia Totalis	Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4
Congenital Anonychia	Nonsyndromic Congenital Nail Disorder, 4
Absent Nails	Aplastic Nails
Congenital Absence Of Nails	Isolated Anonychia
Nail Disorder, Non-Syndromic Congenital, 4	Nail Disorder, Nonsyndromic, Congenital, Type 4

Ectodermal Dysplasia 4, Hair/Nail Type

Pure Hair And Nail Ectodermal Dysplasia	ECTD4
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia, 'Pure' Hair/Nail Type
Hned	Hair-Nail Ectodermal Dysplasia
Phned	Ectodermal Dysplasia Pure Hair-Nail Type
Ectodermal Dysplasia, 'Pure' Hair-Nail Type	Dysplasia, Ectodermal, Type 4, Hair/Nail

Hypotrichosis 6

HYPT6	Lah1
Hypotrichosis, Localized, Autosomal Recessive	Monilethrix-Like Hypotrichosis
Hypotrichosis, Localized, Autosomal Recessive 1	Lah
Htl	Autosomal Recessive Localized Hypotrichosis
Hypotrichosis Localized Autosomal Recessive	Hypotrichosis Localized Autosomal Recessive 1
Hypotrichosis, Type 6

Nonsyndromic Congenital Nail Disorder

Nail Disorder, Nonsyndromic Congenital

Mucinoses

Hypotrichosis 4

HYPT4	Marie Unna Hereditary Hypotrichosis 1
Muhh1	Hypotrichosis, Marie Unna Type, 1
Hypotrichosis Marie Unna 1	Marie Unna Hereditary Hypotrichosis Type 1
Hypotrichosis, Hereditary, Marie Unna Type, 1	Hypotrichosis, Type 4

Monilethrix

Beaded Hair	MNLIX
Nodose Hair	Moniliform Hair Syndrome

Waardenburg Syndrome, Type 4c

Waardenburg Syndrome Type 4c	WS4C
Waardenburg Syndrome Type Ivc	Waardenburg Syndrome With Hirschsprung Disease Type 4c
Waardenburg Syndrome With Hirschsprung Disease, Type 4c	Waardenburg Syndrome, Type Ivc
Waardenburg Syndrome 4c	Hirschsprung Disease With Pigmentary Anomaly
Shah-Waardenburg Syndrome	Waardenburg-Shah Syndrome
Waardenburg Syndrome, Type 4a

Hair Disease

Hair Diseases	Hair Anomaly
Hair Disorder	Hair Problems

T-Cell Immunodeficiency With Thymic Aplasia

Nezelof Syndrome	T-Lymphocyte Deficiency
TIDTA	Immune Defect Due To Absence Of Thymus
Thymic Aplasia	Nezelof'S Syndrome
Thymic Dysplasia With Normal Immunoglobulins	Thymic Aplasia Syndrome
T-Lymphocyte Immunodeficiency

Hypotrichosis 8

HYPT8	Lah3
Hypotrichosis, Localized, Autosomal Recessive 3	Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis
Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis	Hypotrichosis Localized Autosomal Recessive 3
Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis	ARWH1
Hypotrichosis, Type 8

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Hypohidrotic Ectodermal Dysplasia	Hed
Anhidrotic Ectodermal Dysplasia	Ectodermal Dysplasia, Hypohidrotic
Eda	Christ-Siemens-Touraine Syndrome
ECTD10B	Ectodermal Dysplasia Anhidrotic
Ectodermal Dysplasia, Anhidrotic	Cst Syndrome
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive	Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive
Dysplasia, Ectodermal, Hypohidrotic	Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Ectodermal Dysplasia 3, Anhidrotic	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

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-RS07462	KRT71 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KRT71	RGD	RGD:1584538
Bos taurus	KRT71	VGNC	VGNC:30735
Macaca mulatta	KRT71	VGNC	VGNC:74147
Mus musculus	KRT71	MGD	MGI:1861586
Felis catus	KRT71	VGNC	VGNC:63171

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