Rabbit anti-Human MITF Polyclonal Antibody

Uniprot Id

O75030

Target Species

Human

Target Name

MITF

Target Full Name

Microphthalmia-associated transcription factor

Target Function

Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.

Target Involvement

Waardenburg syndrome 2A (WS2A); Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA); Tietz albinism-deafness syndrome (TADS); Melanoma, cutaneous malignant 8 (CMM8); Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)

Target Subcellular Location

Nucleus. Cytoplasm.

Target Protein Families

MiT/TFE family

Target Tissue Specificity

Expressed in melanocytes (at protein level).; [Isoform A2]: Expressed in the retinal pigment epithelium, brain, and placenta. Expressed in the kidney.; [Isoform C2]: Expressed in the kidney and retinal pigment epithelium.; [Isoform H1]: Expressed in the k

Target Synonyms

BHLHE32; bHLHe32; Class E basic helix-loop-helix protein 32; CMM8; Homolog of mouse microphthalmia ; Mi; Microphthalmia associated transcription factor; Microphthalmia, mouse, homolog of; Microphthalmia-associated transcription factor; MITF; MITF_HUMAN; mitfa; nacre; WS2; WS2A; z3A.1

Target Background

The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome.