KRT74

Highest pathogenic variant AF is 0.000029115761

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000305620

Coding exons

9

Length

8044

Individuals with no LoFs

125329

Homozygous LoFs

2

Heterozygous LoFs

417

Defined

125748

p

0.00167

Function

FUNCTION: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable). {ECO:0000305}.;

Disease

DISEASE: Hypotrichosis 3 (HYPT3) [MIM:613981]: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. {ECO:0000269|PubMed:21188418}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Ectodermal dysplasia 7, hair/nail type (ECTD7) [MIM:614929]: 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. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non- ectodermal or other ectodermal manifestations. {ECO:0000269|PubMed:24714551}. Note=The disease is caused by mutations affecting the gene represented in this entry.;