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Items: 7

1.

Keratin-6

A type II keratin found associated with KERATIN-16 or KERATIN-17 in rapidly proliferating squamous epithelial tissue. Mutations in gene for keratin-6A and keratin-6B have been associated with PACHYONYCHIA CONGENITA, TYPE 1 and PACHYONYCHIA CONGENITA, TYPE 2 respectively.

Year introduced: 2007(2006)

2.

Keratin-16

A type I keratin expressed in a variety of EPITHELIUM, including the ESOPHAGUS, the TONGUE, the HAIR FOLLICLE and NAILS. Keratin-16 is normally found associated with KERATIN-6. Mutations in the gene for keratin-6 have been associated with PACHYONYCHIA CONGENITA, TYPE 1.

Year introduced: 2007(1998)

3.

Keratin-17

A type I keratin found associated with KERATIN-6 in rapidly proliferating squamous epithelial tissue. Mutations in the gene for keratin-17 have been associated with PACHYONYCHIA CONGENITA, TYPE 2.

Year introduced: 2007(1998)

4.

Pachyonychia Congenita

A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.

Year introduced: 2007

5.

KRT74 protein, human [Supplementary Concept]

RefSeq NM_175053

Date introduced: April 28, 2003

6.

KRT73 protein, human [Supplementary Concept]

RefSeq NM_175068

Date introduced: April 28, 2003

7.

KRT71 protein, human [Supplementary Concept]

RefSeq NM_033448

Date introduced: June 11, 2002

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